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Durum raporu · Nörolojik

Kalıtsal Nörodejeneratif Hastalıklar

Tüm genom dizilemesi, sinir sisteminin bazı bölümlerinin anormal gelişmesine veya zamanla işlevini yitirmesine yol açan kalıtsal hastalıklara neden olan değişiklikler için KIF5A, UNC80, AGTPBP1, TBCD, TBCE, QARS1, SLC30A9, ALS2 ve TUBB4A genlerini inceler.

Durum raporu, kapsadığı durumlara neden olduğu bilinen nadir varyantları arar.

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Bu condition hakkında

Sinir sisteminin bazı bölümlerinin gelişiminde anormallik olduğu ya da zamanla işlevini yitirdiği, nadir görülen kalıtsal hastalıklar grubu. Bu rapor KIF5A, UNC80, AGTPBP1, TBCD, TBCE, QARS1, SLC30A9, ALS2 ve TUBB4A genlerinin neden olduğu hastalıkları kapsamaktadır.

Kalıtsal nörodejeneratif hastalıklar, sinir sisteminin bazı bölümlerinin anormal gelişmesine veya zamanla işlevini yitirmesine yol açan nadir hastalıklar grubudur. Bu rapor seçilmiş dokuz geni kapsamaktadır; belirtiler çocukluk çağı gelişim sorunlarından erişkinlik döneminde başlayan motor nöron hastalığına kadar değişebilmektedir.

Bu hastalıklar, bu genlerin iki kopyasından birindeki ya da her ikisindeki değişikliklerden kaynaklanır. KIF5A geninin bir kopyasındaki değişiklik, değişikliğin yerine bağlı olarak kalıtsal spastik paraplejiye, aksonal tip Charcot-Marie-Tooth hastalığına veya ALS'ye yol açabilir. UNC80 eksikliği, AGTPBP1 ilişkili serebellar atrofi ve TBCD ilişkili ensefalopati gibi diğer hastalıklar ise her iki kopyadaki değişikliği gerektirir.

Belirtiler kişiden kişiye farklılık gösterir. Bazı çocuklarda, UNC80 eksikliğinde olduğu gibi ciddi gelişimsel gecikme ve konuşma yokluğu ya da çok az konuşma görülür. Diğerlerinde ALS2 ilişkili hastalıkta olduğu gibi bacaklarda ilerleyici sertlik ve güçsizlik, ya da QARS1 ilişkili hastalıkta olduğu gibi erken başlayan nöbetler ve ilerleyici mikrosefali görülebilir.

Bu hastalıkların çoğu otozomal resesif yolla kalıtılırken, KIF5A ve TUBB4A değişiklikleri dominanttır. Tedavi destekleyici ve semptomatiktir; genetik danışmanlık, ailelerin risklerini anlamasına yardımcı olur. Negatif bir sonuç, kalıtsal bir nörodejeneratif hastalığı tamamen dışlamaz.

Analiz ettiğimiz 8 durum

KIF5A ile İlişkili Nörodejeneratif Hastalık

Otozomal dominant

KIF5A genindeki bir kopyadaki değişikliklerden kaynaklanır. Bu gen, yük bağlayıcı bir kuyruğa sahip motor bir proteini kodlar. Farklı tipteki değişiklikler farklı hastalıklara yol açar: herediter spastik paraplejinin 10. tipi, Charcot-Marie-Tooth hastalığının aksonal bir formu ve amyotrofik lateral skleroz (ALS).

Belirtiler ve semptomlar

Spastik paraplejide bacaklarda ilerleyici sertlik ve güçsüzlük görülür, bazen el ve ayaklarda sinir hasarı eşlik eder. Genin sonuna yakın değişiklikler, genellikle yetişkinlikte ilerleyici kas güçsüzlüğüyle başlayan ALS ile ilişkilendirilmiştir.

Bir tanının neyi değiştirdiği

Tedavi semptomlara yöneliktir ve tabloya bağlıdır; fizyoterapi, antispastisite ilaçları ve multidisipliner ALS bakımını içerir. Etkilenmiş bir kişinin her çocuğunun bu değişikliği miras alma olasılığı 2'de 1'dir; genetik danışmanlık ailelerin bunu anlamasına yardımcı olur.

Analiz edilen genler

Diğer adları

genetic neurodegenerative disease; hereditary neurodegenerative disease; hereditary neurodegenerative disorder

Kapsanan özgül formlar

  • UNC80 Yetersizliği (Psikomotor Gecikme ve Karakteristik Yüz Görünümü ile Seyreden Infantil Hipotoni 2)

    Otozomal resesif

    UNC80 geninin her iki kopyasındaki değişikliklerden kaynaklanır. Etkilenen çocuklarda ağır gelişimsel gecikme ve az ya da hiç konuşma görülür.

    UNC80

  • AGTPBP1 ile İlişkili Serebellar Atrofili Nörodejenerasyon

    Otozomal resesif

    AGTPBP1 geninin her iki kopyasındaki değişikliklerden kaynaklanır. Bu genin kaybı, serebellar ve motor sinir hücrelerinin dejenerasyonuna yol açar; bu durum 'Purkinje hücre dejenerasyonu' fare modeline benzer.

    AGTPBP1

  • TBCD ile İlişkili İlerleyici Ensefalopati ve Beyin Atrofisi

    Otozomal resesif

    TBCD genindeki her iki kopyadaki değişikliklerden kaynaklanır. Bu gen, motor nöronlarda ve merkezi sinir sisteminde tubulin bütünlüğü için gerekli olan, tubulin katlanmasında görev alan bir kofaktörü kodlar.

    TBCD, TBCE

  • QARS1 ile İlişkili Nöbetler ve Beyin Atrofisi ile Seyreden İlerleyici Mikrosefali

    Otozomal resesif

    QARS1 genindeki her iki kopyadaki değişikliklerden kaynaklanır. Bu gen, protein yapımında gerekli bir enzim olan glutaminil-tRNA sentetazı kodlar. Enzim aktivitesinin azalması özellikle gelişmekte olan beyni etkiler.

    QARS1

  • Birk-Landau-Perez Sendromu (SLC30A9)

    Otozomal resesif

    SLC30A9 genindeki her iki kopyadaki değişikliklerden kaynaklanır. Bu gen, mitokondri ve diğer hücre bölmelerinde bulunan bir çinko taşıyıcısını kodlar. Hastalık ilk kez geniş bir akraba evliliği olan ailede tanımlanmış olup yalnızca birkaç aile bildirilmiştir.

    SLC30A9

  • ALS2 ile İlişkili Motor Nöron Hastalığı

    Otozomal resesif

    ALS2 genindeki her iki kopyadaki değişikliklerden kaynaklanır. Bu gen, motor sinir hücrelerinde membran trafiğinde görev alan bir protein olan alsini kodlar. Değişiklikler başlıca beyinden omuriliğe uzanan üst motor nöronları etkiler.

    ALS2

  • TUBB4A ile İlişkili Nörolojik Bozukluk

    Otozomal dominant

    TUBB4A genindeki bir kopyadaki değişikliklerden kaynaklanır. Çoğu vaka, de novo değişikliklerden ya da mozaik bir ebeveynden miras alınan değişikliklerden kaynaklanan tekil vakalardır.

    TUBB4A

827 ilgili alt tip içerir ↓
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  • Alzheimer disease 12
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  • Alzheimer disease 17
  • Alzheimer disease 18
  • Alzheimer disease 2
  • Alzheimer disease 3
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  • Alzheimer disease 5
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  • Alzheimer disease type 1
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  • amyotrophic lateral sclerosis type 12
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  • amyotrophic lateral sclerosis type 16
  • amyotrophic lateral sclerosis type 18
  • amyotrophic lateral sclerosis type 19
  • amyotrophic lateral sclerosis type 2, juvenile
  • amyotrophic lateral sclerosis type 20
  • amyotrophic lateral sclerosis type 21
  • amyotrophic lateral sclerosis type 22
  • amyotrophic lateral sclerosis type 23
  • amyotrophic lateral sclerosis type 3
  • amyotrophic lateral sclerosis type 4
  • amyotrophic lateral sclerosis type 5
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  • autosomal recessive spinocerebellar ataxia 13
  • autosomal recessive spinocerebellar ataxia 14
  • autosomal recessive spinocerebellar ataxia 15
  • autosomal recessive spinocerebellar ataxia 16
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  • frontotemporal dementia and/or amyotrophic lateral sclerosis 2
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 3
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 4
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  • frontotemporal dementia and/or amyotrophic lateral sclerosis 6
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  • GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
  • hereditary cerebellar ataxia
  • hereditary motor neuron disease
  • hereditary optic atrophy
  • hereditary sensory and autonomic neuropathy with spastic paraplegia
  • hereditary sensory neuropathy-deafness-dementia syndrome
  • hereditary spastic paraplegia
  • hereditary spastic paraplegia 10
  • hereditary spastic paraplegia 11
  • hereditary spastic paraplegia 12
  • hereditary spastic paraplegia 13
  • hereditary spastic paraplegia 14
  • hereditary spastic paraplegia 15
  • hereditary spastic paraplegia 16
  • hereditary spastic paraplegia 17
  • hereditary spastic paraplegia 18
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  • hereditary spastic paraplegia 2
  • hereditary spastic paraplegia 23
  • hereditary spastic paraplegia 24
  • hereditary spastic paraplegia 25
  • hereditary spastic paraplegia 26
  • hereditary spastic paraplegia 27
  • hereditary spastic paraplegia 28
  • hereditary spastic paraplegia 29
  • hereditary spastic paraplegia 30
  • hereditary spastic paraplegia 31
  • hereditary spastic paraplegia 32
  • hereditary spastic paraplegia 33
  • hereditary spastic paraplegia 34
  • hereditary spastic paraplegia 35
  • hereditary spastic paraplegia 36
  • hereditary spastic paraplegia 37
  • hereditary spastic paraplegia 38
  • hereditary spastic paraplegia 39
  • hereditary spastic paraplegia 3A
  • hereditary spastic paraplegia 4
  • hereditary spastic paraplegia 41
  • hereditary spastic paraplegia 42
  • hereditary spastic paraplegia 43
  • hereditary spastic paraplegia 44
  • hereditary spastic paraplegia 45
  • hereditary spastic paraplegia 46
  • hereditary spastic paraplegia 47
  • hereditary spastic paraplegia 48
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  • hereditary spastic paraplegia 50
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  • infantile neuronal ceroid lipofuscinosis
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  • infantile neuronal ceroid lipofuscinosis 2
  • infantile-onset ascending hereditary spastic paralysis
  • infantile-onset autosomal recessive nonprogressive cerebellar ataxia
  • infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
  • infantile-onset X-linked spinal muscular atrophy
  • inherited Creutzfeldt-Jakob disease
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  • Joubert syndrome 15
  • Joubert syndrome 16
  • Joubert syndrome 2
  • Joubert syndrome 20
  • Joubert syndrome 21
  • Joubert syndrome 28
  • Joubert syndrome 3
  • Joubert syndrome 5
  • Joubert syndrome 9
  • Joubert syndrome and related disorders
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  • Joubert syndrome with ocular defect
  • Joubert syndrome with oculorenal defect
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  • juvenile Huntington disease
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  • juvenile neuronal ceroid lipofuscinosis 1
  • juvenile neuronal ceroid lipofuscinosis 10
  • juvenile neuronal ceroid lipofuscinosis 2
  • juvenile neuronal ceroid lipofuscinosis 3
  • juvenile neuronal ceroid lipofuscinosis 5
  • juvenile neuronal ceroid lipofuscinosis 6
  • juvenile or adult CACH syndrome
  • juvenile primary lateral sclerosis
  • Kennedy disease
  • Krabbe disease
  • Kufor-Rakeb syndrome
  • kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
  • late infantile CACH syndrome
  • late infantile neuronal ceroid lipofuscinosis 1
  • late infantile neuronal ceroid lipofuscinosis 10
  • late infantile neuronal ceroid lipofuscinosis 2
  • late infantile neuronal ceroid lipofuscinosis 5
  • late infantile neuronal ceroid lipofuscinosis 6
  • late infantile neuronal ceroid lipofuscinosis 8
  • late-infantile/juvenile Krabbe disease
  • lateral sclerosis
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  • leukodystrophy, childhood-onset, remitting
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  • leukodystrophy, hypomyelinating, 11
  • leukodystrophy, hypomyelinating, 12
  • leukodystrophy, hypomyelinating, 13
  • leukodystrophy, hypomyelinating, 14
  • leukodystrophy, hypomyelinating, 15
  • leukodystrophy, hypomyelinating, 16
  • leukodystrophy, hypomyelinating, 17
  • leukodystrophy, hypomyelinating, 18
  • leukodystrophy, hypomyelinating, 19, transient infantile
  • leukodystrophy, hypomyelinating, 2
  • leukodystrophy, hypomyelinating, 20
  • leukodystrophy, hypomyelinating, 21
  • leukodystrophy, hypomyelinating, 22
  • leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
  • leukodystrophy, hypomyelinating, 24
  • leukodystrophy, hypomyelinating, 25
  • leukodystrophy, hypomyelinating, 26, with chondrodysplasia
  • leukodystrophy, hypomyelinating, 27
  • leukodystrophy, hypomyelinating, 28
  • leukodystrophy, hypomyelinating, 3
  • leukodystrophy, hypomyelinating, 4
  • leukodystrophy, hypomyelinating, 5
  • leukodystrophy, hypomyelinating, 6
  • leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
  • leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
  • leukodystrophy, hypomyelinating, 9
  • leukoencephalopathy with bilateral anterior temporal lobe cysts
  • leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
  • leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • leukoencephalopathy with vanishing white matter
  • leukoencephalopathy with vanishing white matter 1
  • leukoencephalopathy with vanishing white matter 2
  • leukoencephalopathy with vanishing white matter 3
  • leukoencephalopathy with vanishing white matter 4
  • leukoencephalopathy with vanishing white matter 5
  • leukoencephalopathy without lacunae, adult-onset
  • leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
  • leukoencephalopathy, diffuse hereditary, with spheroids 1
  • leukoencephalopathy, hereditary diffuse, with spheroids 2
  • leukoencephalopathy, porphyria-related
  • leukoencephalopathy, progressive, with ovarian failure
  • Lichtenstein-Knorr syndrome
  • lower motor neuron syndrome with late-adult onset
  • Machado-Joseph disease
  • Machado-Joseph disease type 1
  • Machado-Joseph disease type 2
  • Machado-Joseph disease type 3
  • Machado-Joseph disease type 4
  • macrocephaly-spastic paraplegia-dysmorphism syndrome
  • Marinesco-Sjogren syndrome
  • MASA syndrome
  • mast syndrome
  • maternally-inherited spastic paraplegia
  • megalencephalic leukoencephalopathy with subcortical cysts
  • megalencephalic leukoencephalopathy with subcortical cysts 1
  • megalencephalic leukoencephalopathy with subcortical cysts 2A
  • megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
  • metachromatic leukodystrophy
  • metachromatic leukodystrophy due to saposin B deficiency
  • metachromatic leukodystrophy, adult form
  • metachromatic leukodystrophy, juvenile form
  • metachromatic leukodystrophy, late infantile form
  • microphthalmia-brain atrophy syndrome
  • mild Canavan disease
  • mitochondrial DNA depletion syndrome 4a
  • mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
  • motor neuron disease with dementia and ophthalmoplegia
  • multiple mitochondrial dysfunctions syndrome 4
  • myoclonic cerebellar dyssynergia
  • myopathy, myofibrillar, 13, with rimmed vacuoles
  • NAD(P)HX dehydratase deficiency
  • neuroacanthocytosis
  • neurodegeneration and seizures due to copper transport defect
  • neurodegeneration with ataxia and late-onset optic atrophy
  • neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
  • neurodegeneration with brain iron accumulation
  • neurodegeneration with brain iron accumulation 2A
  • neurodegeneration with brain iron accumulation 2B
  • neurodegeneration with brain iron accumulation 4
  • neurodegeneration with brain iron accumulation 5
  • neurodegeneration with brain iron accumulation 6
  • neurodegeneration with brain iron accumulation 7
  • neurodegeneration with brain iron accumulation 8
  • neurodegeneration with brain iron accumulation 9
  • neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
  • neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
  • neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
  • neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline
  • neurodegeneration, childhood-onset, with cerebellar atrophy
  • neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
  • neurodegeneration, childhood-onset, with progressive microcephaly
  • neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
  • neurodegeneration, infantile-onset, biotin-responsive
  • neurodegenerative disorder with cerebellar and caudate atrophy
  • neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment
  • neurodegenerative syndrome due to cerebral folate transport deficiency
  • neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
  • neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism
  • neuroferritinopathy
  • neurogenic scapuloperoneal syndrome, Kaeser type
  • neuronal ceroid lipofuscinosis
  • neuronal ceroid lipofuscinosis 1
  • neuronal ceroid lipofuscinosis 10
  • neuronal ceroid lipofuscinosis 11
  • neuronal ceroid lipofuscinosis 13
  • neuronal ceroid lipofuscinosis 15
  • neuronal ceroid lipofuscinosis 2
  • neuronal ceroid lipofuscinosis 3
  • neuronal ceroid lipofuscinosis 5
  • neuronal ceroid lipofuscinosis 7
  • neuronal ceroid lipofuscinosis 8
  • neuronal ceroid lipofuscinosis 8 northern epilepsy variant
  • neuronal ceroid lipofuscinosis 9
  • neuronal intranuclear inclusion disease
  • neuronopathy, distal hereditary motor, autosomal dominant
  • neuronopathy, distal hereditary motor, autosomal dominant 1
  • neuronopathy, distal hereditary motor, autosomal dominant 10
  • neuronopathy, distal hereditary motor, autosomal dominant 11
  • neuronopathy, distal hereditary motor, autosomal dominant 15
  • neuronopathy, distal hereditary motor, autosomal dominant 8
  • neuronopathy, distal hereditary motor, autosomal recessive
  • neuronopathy, distal hereditary motor, autosomal recessive 10
  • neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity
  • neuronopathy, distal hereditary motor, autosomal recessive 3
  • neuronopathy, distal hereditary motor, autosomal recessive 4
  • neuronopathy, distal hereditary motor, autosomal recessive 5
  • neuronopathy, distal hereditary motor, autosomal recessive 7
  • neuronopathy, distal hereditary motor, autosomal recessive 8
  • neuronopathy, distal hereditary motor, autosomal recessive 9
  • neuronopathy, distal hereditary motor, type 2A
  • neuronopathy, distal hereditary motor, type 2B
  • neuronopathy, distal hereditary motor, type 2C
  • neuronopathy, distal hereditary motor, type 2D
  • neuronopathy, distal hereditary motor, type 5
  • neuronopathy, distal hereditary motor, type 5A
  • neuronopathy, distal hereditary motor, type 5B
  • neuronopathy, distal hereditary motor, type 5C
  • neuronopathy, distal hereditary motor, type 7A
  • neuronopathy, distal hereditary motor, type 7B
  • neuronopathy, distal hereditary motor, type 9
  • non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
  • non-Zellweger spectrum disorder
  • null syndrome
  • odontoleukodystrophy
  • optic atrophy 10 with or without ataxia, intellectual disability, and seizures
  • optic atrophy 11
  • optic atrophy 12
  • optic atrophy 13 with retinal and foveal abnormalities
  • optic atrophy 14
  • optic atrophy 15
  • optic atrophy 16
  • optic atrophy 2
  • optic atrophy 3
  • optic atrophy 4
  • optic atrophy 5
  • optic atrophy 6
  • optic atrophy 8
  • optic atrophy 9
  • optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
  • optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant
  • osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
  • pantothenate kinase-associated neurodegeneration
  • parkinsonism due to ATP13A2 deficiency
  • PEHO syndrome
  • Pelizaeus-Merzbacher disease in female carriers
  • Pelizaeus-Merzbacher disease, classic form
  • Pelizaeus-Merzbacher disease, connatal form
  • Pelizaeus-Merzbacher disease, transitional form
  • Pelizaeus-Merzbacher spectrum disorder
  • Pelizaeus-Merzbacher-like disease
  • peroxisome biogenesis disorder
  • peroxisome biogenesis disorder 10A (Zellweger)
  • peroxisome biogenesis disorder 10B
  • peroxisome biogenesis disorder 11A (Zellweger)
  • peroxisome biogenesis disorder 11B
  • peroxisome biogenesis disorder 12A (Zellweger)
  • peroxisome biogenesis disorder 13A (Zellweger)
  • peroxisome biogenesis disorder 14B
  • peroxisome biogenesis disorder 1A (Zellweger)
  • peroxisome biogenesis disorder 1B
  • peroxisome biogenesis disorder 2A (Zellweger)
  • peroxisome biogenesis disorder 2B
  • peroxisome biogenesis disorder 3A (Zellweger)
  • peroxisome biogenesis disorder 4A (Zellweger)
  • peroxisome biogenesis disorder 4B
  • peroxisome biogenesis disorder 5A (Zellweger)
  • peroxisome biogenesis disorder 5B
  • peroxisome biogenesis disorder 6A (Zellweger)
  • peroxisome biogenesis disorder 6B
  • peroxisome biogenesis disorder 7A (Zellweger)
  • peroxisome biogenesis disorder 7B
  • peroxisome biogenesis disorder 8A (Zellweger)
  • peroxisome biogenesis disorder 8B
  • peroxisome biogenesis disorder 9B
  • peroxisome biogenesis disorder due to PEX1 defect
  • peroxisome biogenesis disorder due to PEX10 defect
  • peroxisome biogenesis disorder due to PEX11B defect
  • peroxisome biogenesis disorder due to PEX12 defect
  • peroxisome biogenesis disorder due to PEX13 defect
  • peroxisome biogenesis disorder due to PEX14 defect
  • peroxisome biogenesis disorder due to PEX16 defect
  • peroxisome biogenesis disorder due to PEX19 defect
  • peroxisome biogenesis disorder due to PEX2 defect
  • peroxisome biogenesis disorder due to PEX26 defect
  • peroxisome biogenesis disorder due to PEX3 defect
  • peroxisome biogenesis disorder due to PEX5 defect
  • peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
  • peroxisome biogenesis disorder due to PEX6 defect
  • peroxisome biogenesis disorder due to PEX7 defect
  • peroxisome biogenesis disorder type 3B
  • peroxisome biogenesis disorder, complementation group 2
  • peroxisome biogenesis disorder, complementation group 3
  • peroxisome biogenesis disorder, complementation group K
  • Perry syndrome
  • Pick disease
  • PLA2G6-associated neurodegeneration
  • PNPLA6-related spastic paraplegia with or without ataxia
  • POLR-related leukodystrophy
  • POLR3-related leukodystrophy
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
  • pontocerebellar hypoplasia type 1
  • pontocerebellar hypoplasia type 1A
  • pontocerebellar hypoplasia type 1B
  • pontocerebellar hypoplasia type 2
  • pontocerebellar hypoplasia type 2A
  • pontocerebellar hypoplasia type 2B
  • pontocerebellar hypoplasia type 2C
  • pontocerebellar hypoplasia type 2D
  • pontocerebellar hypoplasia, type 1C
  • pontocerebellar hypoplasia, type 2F
  • posterior column ataxia-retinitis pigmentosa syndrome
  • posterior cortical atrophy
  • prenatal-onset spinal muscular atrophy with congenital bone fractures
  • primary lateral sclerosis, adult, 1
  • PRKAR1B-related neurodegenerative dementia with intermediate filaments
  • progressive bulbar palsy
  • progressive bulbar palsy of childhood
  • progressive cavitating leukoencephalopathy
  • progressive encephalopathy with leukodystrophy due to DECR deficiency
  • progressive myoclonic epilepsy type 3
  • progressive non-fluent aphasia
  • progressive supranuclear palsy
  • progressive supranuclear palsy-corticobasal syndrome
  • progressive supranuclear palsy-parkinsonism syndrome
  • progressive supranuclear palsy-progressive non-fluent aphasia syndrome
  • progressive supranuclear palsy-pure akinesia with gait freezing syndrome
  • protracted juvenile neuronal ceroid lipofuscinosis 3
  • proximal spinal muscular atrophy
  • psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  • pure hereditary spastic paraplegia
  • pure or complex hereditary spastic paraplegia
  • radiation sensitivity/chromosome instability syndrome, autosomal dominant
  • ravine syndrome
  • recessive mitochondrial ataxia syndrome
  • recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
  • rhizomelic chondrodysplasia punctata type 1
  • rhizomelic chondrodysplasia punctata type 5
  • riboflavin transporter deficiency
  • ribose-5-P isomerase deficiency
  • RIDDLE syndrome
  • RNASEH2B-related hereditary spastic paraplegia
  • Sandhoff disease
  • Sandhoff disease, adult form
  • Sandhoff disease, infantile form
  • Sandhoff disease, juvenile form
  • scapuloperoneal spinal muscular atrophy, autosomal dominant
  • scapuloperoneal spinal muscular atrophy, autosomal recessive
  • semantic dementia
  • severe Canavan disease
  • severe neurodegenerative syndrome with lipodystrophy
  • short-rib thoracic dysplasia 14 with polydactyly
  • Sjogren-Larsson syndrome
  • spastic ataxia 2
  • spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
  • spastic paraplegia 18a, autosomal dominant
  • spastic paraplegia 18b, autosomal recessive
  • spastic paraplegia 30A, autosomal dominant
  • spastic paraplegia 30B, autosomal recessive
  • spastic paraplegia 72b, autosomal recessive
  • spastic paraplegia 79A, autosomal dominant, with ataxia
  • spastic paraplegia 80, autosomal dominant
  • spastic paraplegia 81, autosomal recessive
  • spastic paraplegia 82, autosomal recessive
  • spastic paraplegia 83, autosomal recessive
  • spastic paraplegia 84, autosomal recessive
  • spastic paraplegia 85, autosomal recessive
  • spastic paraplegia 86, autosomal recessive
  • spastic paraplegia 87, autosomal recessive
  • spastic paraplegia 88, autosomal dominant
  • spastic paraplegia 89, autosomal recessive
  • spastic paraplegia 90A, autosomal dominant
  • spastic paraplegia 90B, autosomal recessive
  • spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia
  • spastic paraplegia 92, autosomal recessive
  • spastic paraplegia 93, autosomal recessive
  • spastic paraplegia-epilepsy-intellectual disability syndrome
  • spastic paraplegia-facial-cutaneous lesions syndrome
  • spastic paraplegia-glaucoma-intellectual disability syndrome
  • spastic paraplegia-nephritis-deafness syndrome
  • spastic paraplegia-neuropathy-poikiloderma syndrome
  • spastic paraplegia-Paget disease of bone syndrome
  • spastic paraplegia-precocious puberty syndrome
  • spastic paraplegia-severe developmental delay-epilepsy syndrome
  • spastic paraplegia, intellectual disability, nystagmus, and obesity
  • spastic paraplegia, optic atropy, and neuropathy
  • spinal atrophy-ophthalmoplegia-pyramidal syndrome
  • spinal muscular atrophy
  • spinal muscular atrophy type 0
  • spinal muscular atrophy with congenital bone fractures 1
  • spinal muscular atrophy with congenital bone fractures 2
  • spinal muscular atrophy with respiratory distress type 2
  • spinal muscular atrophy-progressive myoclonic epilepsy syndrome
  • spinal muscular atrophy, distal, autosomal recessive, 6
  • spinal muscular atrophy, facioscapulohumeral type
  • spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
  • spinal muscular atrophy, Ryukyuan type
  • spinal muscular atrophy, segmental
  • spinal muscular atrophy, type 1
  • spinal muscular atrophy, type II
  • spinal muscular atrophy, type III
  • spinal muscular atrophy, type IV
  • spinocerebellar ataxia 27A
  • spinocerebellar ataxia 27B, late-onset
  • spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
  • spinocerebellar ataxia 43
  • spinocerebellar ataxia 44
  • spinocerebellar ataxia 45
  • spinocerebellar ataxia 46
  • spinocerebellar ataxia 47
  • spinocerebellar ataxia 48
  • spinocerebellar ataxia 49
  • spinocerebellar ataxia 50
  • spinocerebellar ataxia 51
  • spinocerebellar ataxia 52
  • spinocerebellar ataxia 7
  • spinocerebellar ataxia 9
  • spinocerebellar ataxia type 1
  • spinocerebellar ataxia type 10
  • spinocerebellar ataxia type 11
  • spinocerebellar ataxia type 12
  • spinocerebellar ataxia type 13
  • spinocerebellar ataxia type 14
  • spinocerebellar ataxia type 15/16
  • spinocerebellar ataxia type 17
  • spinocerebellar ataxia type 18
  • spinocerebellar ataxia type 19/22
  • spinocerebellar ataxia type 2
  • spinocerebellar ataxia type 20
  • spinocerebellar ataxia type 21
  • spinocerebellar ataxia type 23
  • spinocerebellar ataxia type 25
  • spinocerebellar ataxia type 26
  • spinocerebellar ataxia type 27
  • spinocerebellar ataxia type 28
  • spinocerebellar ataxia type 29
  • spinocerebellar ataxia type 30
  • spinocerebellar ataxia type 31
  • spinocerebellar ataxia type 32
  • spinocerebellar ataxia type 34
  • spinocerebellar ataxia type 35
  • spinocerebellar ataxia type 36
  • spinocerebellar ataxia type 37
  • spinocerebellar ataxia type 38
  • spinocerebellar ataxia type 4
  • spinocerebellar ataxia type 40
  • spinocerebellar ataxia type 41
  • spinocerebellar ataxia type 42
  • spinocerebellar ataxia type 5
  • spinocerebellar ataxia type 6
  • spinocerebellar ataxia type 8
  • spinocerebellar ataxia, autosomal recessive 22
  • spinocerebellar ataxia, autosomal recessive 23
  • spinocerebellar ataxia, autosomal recessive 24
  • spinocerebellar ataxia, autosomal recessive 25
  • spinocerebellar ataxia, autosomal recessive 26
  • spinocerebellar ataxia, autosomal recessive 27
  • spinocerebellar ataxia, autosomal recessive 28
  • spinocerebellar ataxia, autosomal recessive 29
  • spinocerebellar ataxia, autosomal recessive 30
  • spinocerebellar ataxia, autosomal recessive 31
  • spinocerebellar ataxia, autosomal recessive 32
  • spinocerebellar ataxia, autosomal recessive 33
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
  • spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
  • spinocerebellar ataxia, X-linked 2
  • spinocerebellar degeneration with slow eye movements
  • sterol carrier protein 2 deficiency
  • striatal degeneration, autosomal dominant
  • striatal degeneration, autosomal dominant 2
  • striatonigral degeneration
  • striatonigral degeneration, childhood-onset
  • striatonigral degeneration, infantile, mitochondrial
  • supranuclear palsy, progressive, 1
  • supranuclear palsy, progressive, 2
  • supranuclear palsy, progressive, 3
  • Tay-Sachs disease
  • Tay-Sachs disease AB variant
  • Tay-Sachs disease, B variant, adult form
  • Tay-Sachs disease, b variant, infantile form
  • Tay-Sachs disease, b variant, juvenile form
  • Tay-Sachs disease, B1 variant
  • tremor-ataxia-central hypomyelination syndrome
  • TREX1-related autosomal dominant Aicardi-Goutieres syndrome
  • trichothiodystrophy 8, nonphotosensitive
  • Troyer syndrome
  • TUBB4A-related neurologic disorder
  • unknown leukodystrophy
  • VPS13A-related neurodegenerative disease
  • Westphal disease
  • Woodhouse-Sakati syndrome
  • X-linked cerebellar ataxia
  • X-linked cerebral adrenoleukodystrophy
  • X-linked distal spinal muscular atrophy type 3
  • X-linked intellectual disability-ataxia-apraxia syndrome
  • X-linked neurodegenerative syndrome, Bertini type
  • X-linked neurodegenerative syndrome, Hamel type
  • X-linked non progressive cerebellar ataxia
  • X-linked progressive cerebellar ataxia
  • X-linked sideroblastic anemia with ataxia
  • X-linked spinocerebellar ataxia type 3
  • X-linked spinocerebellar ataxia type 4
  • XK-related neurodegenerative disease
  • Zellweger spectrum disorders
MONDO:0024237Orphanet 183500MedGen 1825988Kaynaklar: [5][1][3][6]

Neden tüm genom dizilemesi

Bu hastalıkların kalıtım şekilleri farklıdır; bu nedenle ailedeki belirli gen, verilecek önerileri şekillendirir. Tüm genom dizilemesi, seçilmiş dokuz genin tamamını tek bir testte inceler.

Farklı genler, farklı örüntüler

KIF5A ve TUBB4A değişiklikleri dominanttır; bu nedenle etkilenmiş bir ebeveynin her çocuğunun değişikliği kalıtma olasılığı 1/2'dir. Bu raporda yer alan diğer genlerin çoğu ise resesif etki gösterir. Genetik danışmanlık, bir aileye hangi örüntünün uygulandığını açıklar.

Negatif sonuç son değildir

Bu rapor yalnızca seçilmiş genleri kapsar ve kalıtsal nörodejeneratif hastalıklara başka birçok gen de neden olabilir. Spastisite ve distoni gibi belirtiler ortaya çıktıkça tedavi edilir; bu çoğunlukla fizyoterapi ve ilaçlarla yapılır.

Sınırlamalar

  • Bu rapor yalnızca seçilmiş genleri kapsamaktadır. Kalıtsal nörodejeneratif hastalıklara yol açan birçok başka gen vardır; bu nedenle negatif bir sonuç, kalıtsal bir nörodejeneratif hastalık olasılığını tamamen ortadan kaldırmaz.

Kaynakça

  1. Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L et al., 2022. Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia. Brain : a journal of neurology
  2. Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N et al., 2023. Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. International journal of molecular sciences
  3. Amyotrophic lateral sclerosis. MedlinePlus Genetics
  4. Gavazzi F, Pizzino A, Bally JF, Fraser J, Simons C, Wolf NI et al., 2016. TUBB4A-Related Neurologic Disorders. GeneReviews
  5. Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R et al., 2019. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron
  6. Shi Y, Lin S, Staats KA, Li Y, Chang WH, Hung ST et al., 2019. Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons. Nature medicine
  7. Bramswig NC, Zaki MS, 2017. UNC80 Deficiency. GeneReviews
  8. Baltanás FC, Berciano MT, Santos E, Lafarga M, 2021. The Childhood-Onset Neurodegeneration with Cerebellar Atrophy (CONDCA) Disease Caused by AGTPBP1 Gene Mutations: The Purkinje Cell Degeneration Mouse as an Animal Model for the Study of this Human Disease. Biomedicines
  9. Lalonde R, Strazielle C, 2021. The AGTPBP1 gene in neurobiology. Gene
  10. Ikeda T, Nakahara A, Nagano R, Utoyama M, Obara M, Moritake H et al., 2017. TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy. Journal of human genetics
  11. Shen YW, Weng ZF, He W, Chen YH, Wang QH, Zou LP et al., 2021. [QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature]. Zhonghua er ke za zhi = Chinese journal of pediatrics
  12. Chan DL, Rudinger-Thirion J, Frugier M, Riley LG, Ho G, Kothur K et al., 2022. A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders. Brain & development
  13. Perez Y, Shorer Z, Liani-Leibson K, Chabosseau P, Kadir R, Volodarsky M et al., 2017. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. Brain : a journal of neurology
  14. Ge J, Li H, Liang X, Zhou B, 2024. SLC30A9: an evolutionarily conserved mitochondrial zinc transporter essential for mammalian early embryonic development. Cellular and molecular life sciences : CMLS
  15. Steel DBD, Danti FR, Abunada M, Kamien B, Malhotra S, Topf M et al., 2023. Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants. Neurology
  16. Kizhakkedath P, AlDhaheri W, Baydoun I, Tabouni M, John A, Almansoori TM et al., 2023. Case report: Birk-Landau-Perez syndrome linked to the SLC30A9 gene-identification of additional cases and expansion of the phenotypic spectrum. Frontiers in genetics
  17. Orrell RW, 2005. ALS2-Related Disorder. GeneReviews
  18. ALS2 gene. MedlinePlus Genetics
  19. Infantile-onset ascending hereditary spastic paralysis. MedlinePlus Genetics
  20. Juvenile primary lateral sclerosis. MedlinePlus Genetics

Diğer nörolojik conditions

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