Rare Diseases Symptoms Automatic Extraction

[Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy].

[cadasil]

CADASIL is an inherited small vessel disease of the brain caused by mutations of the NOTCH3 gene encoding a receptor of smooth muscle cells and pericytes within the wall of arterioles and capillaries. The mutated gene is responsible for accumulation of NOTCH3 protein and aggregation of various proteins in the vascular wall. The disease occurs during mid-adulthood and is responsible for attacks of migraine with aura, ischemic stroke, mood disorders and cognitive impairment ranging from mild alterations of attentional performances and executive functions to severe dementia. The disease develops in adults with aging and is responsible at the latest stage of gait and balance troubles associated with cognitive impairment that may lead to severe disability and dependence. MRI shows widespread white matter lesions that may involve the anterior part of temporal lobes often associated with small cerebral infarcts and with microbleeds. The clinical severity is related to accumulation of small infarcts and the development of cerebral atrophy over time. The diagnosis of the disease is confirmed by genetic testing or skin biopsy.

Diseases presenting "skin biopsy" symptom

  • adrenomyeloneuropathy
  • cadasil
  • cutaneous mastocytosis
  • dentinogenesis imperfecta
  • dracunculiasis
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • fabry disease
  • harlequin ichthyosis
  • inclusion body myositis
  • junctional epidermolysis bullosa
  • kindler syndrome
  • lamellar ichthyosis
  • malignant atrophic papulosis
  • monosomy 21
  • oligodontia
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • waldenström macroglobulinemia
  • x-linked adrenoleukodystrophy

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