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Zpráva o onemocněních · Neurological

CADASIL

Whole genome sequencing evaluates all hereditary stroke and cerebrovascular genes, providing the molecular diagnosis that changes stroke prevention strategy. These include NOTCH3 (CADASIL), COL4A1, COL4A2, HTRA1 (CARASIL), and additional small vessel disease genes.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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O tomto condition

A condition characterized by disease of the arteries within the brain, leading to small areas of tissue death (infarcts) in the subcortical regions and diffuse damage to the brain's white matter (leukoencephalopathy).

CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is the most common hereditary cerebral small vessel disease, caused by NOTCH3 cysteine-altering variants. Prevalence is estimated at 2-5 per 100,000. CADASIL presents with migraine with aura (typically beginning in the 20s-30s), recurrent lacunar strokes (30s-50s), mood disturbance, and progressive vascular cognitive impairment leading to vascular dementia (50s-60s). The condition is autosomal dominant but frequently undiagnosed: many CADASIL patients carry diagnoses of 'MS,' 'migraine,' or 'early-onset dementia.'

CADASIL management differs fundamentally from typical ischemic stroke management. Anticoagulation and thrombolysis may increase intracerebral hemorrhage risk in CADASIL and are generally AVOIDED, directly contradicting standard stroke guidelines. Antiplatelet therapy is used cautiously. Aggressive blood pressure control is the cornerstone of CADASIL stroke prevention. This management distinction is critical: applying standard stroke protocols to a CADASIL patient may cause harm. Molecular NOTCH3 diagnosis is what triggers CADASIL-specific management.

Additional hereditary stroke genes include COL4A1 and COL4A2, which are autosomal dominant and cause porencephaly, intracerebral hemorrhage, and retinal arteriolar tortuosity. HTRA1 causes CARASIL, an autosomal recessive condition with alopecia and lumbar disc disease. Rare monogenic forms of cerebral amyloid angiopathy are caused by APP, CST3, and ITM2B. Fabry disease (GLA) causes both ischemic and hemorrhagic stroke through vascular endothelial glycolipid accumulation, and is treatable with enzyme replacement therapy. Identifying Fabry as the cause of young-onset stroke is one of the highest-impact genetic diagnoses in stroke neurology.

Anticoagulation and thrombolysis may HARM CADASIL patients, which is the opposite of standard stroke management. Untreated CADASIL patients receiving standard stroke protocols are at increased hemorrhage risk. Molecular diagnosis prevents iatrogenic harm.

Onemocnění, které analyzujeme

Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy

Co se diagnózou změní

CADASIL: aggressive BP control, avoid anticoagulation/thrombolysis, migraine prophylaxis (avoid triptans), cognitive rehabilitation; Fabry: ERT (agalsidase), migalastat; COL4A1: BP control, avoid contact sports; genetic counseling

Analyzované geny

Známé také jako

CADASIL; cerebral arteriopathy with subcortical infaracts and leukoencephalopathy; cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy

Zahrnuje 4 příbuzných podtypů ↓
  • cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
  • cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
  • cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1
  • cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
MONDO:0007432MedGen 199687

Proč sekvenování celého genomu

Standard stroke protocols (anticoagulation, thrombolysis) may harm CADASIL patients. Molecular diagnosis is the only way to identify these patients and redirect their management to CADASIL-specific protocols.

CADASIL is frequently misdiagnosed as MS: years of ineffective MS therapy while the true stroke risk goes unmanaged

CADASIL produces white matter lesions on MRI that can satisfy McDonald MS criteria. Patients may receive disease-modifying MS therapies (interferon, natalizumab) for years, treatments that have no effect on CADASIL and carry significant side effects. Meanwhile, the CADASIL-specific interventions (aggressive BP control, avoiding anticoagulation) are not implemented. NOTCH3 testing should be considered in any adult with white matter disease, migraine with aura, and stroke, particularly with autosomal dominant family history.

Fabry disease causes young-onset stroke and is TREATABLE: missing the diagnosis means missing enzyme replacement therapy

GLA variants causing Fabry disease produce small vessel cerebrovascular disease leading to stroke, often the presenting feature in males and heterozygous females. Fabry disease is treatable with enzyme replacement therapy (agalsidase alfa/beta) and oral chaperone therapy (migalastat), interventions that can prevent further strokes. Without molecular GLA testing, Fabry is never considered in the stroke workup. WGS evaluates GLA alongside NOTCH3 and all other hereditary stroke genes.

Další neurological conditions

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Jeden test. Odpovědi na celý život.

Jedna souprava, zaslaná domů. Celý váš genom je sekvenován na klinickém standardu používaném pro diagnostická rozhodnutí. Zprávy připravené pro lékaře doručíme do vašeho Genome Manageru během 6–8 týdnů — trvale platné a průběžně aktualizované s vývojem vědy.

Od 449 $

Doprava zdarma · Výsledky za 6–8 týdnů

Objednejte si Genome Test