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cadasil/asthenia

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9 results

Injuries of neural tracts in a patient with CADASIL: a diffusion tensor imaging study.

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BACKGROUND We report a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), who showed injuries of the neural tracts, which was demonstrated by diffusion tensor tractography (DTT). METHODS A 64-year-old male patient and seven age-matched

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).

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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is one of the most common heritable cerebral arteriopathy. Responsible for stroke and dementia in young adults and can be diagnosed by skin biopsy. We report a case of a 42 year old man with

Neuromuscular implications in CADASIL.

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OBJECTIVE Recent studies indicate that Notch3 gene mutations not only manifest as cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) but also in the peripheral nerves and skeletal muscles. METHODS A MEDLINE search with appropriate terms was carried

Small cerebral vessel disease in familial amyloid and non-amyloid angiopathies: FAD-PS-1 (P117L) mutation and CADASIL. Immunohistochemical and ultrastructural studies.

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Three patients (of two unrelated Polish families) with early-adult onset dementia were subjects of the study. Two cases, previously diagnosed as familial Alzheimer's disease (FAD) with cerebral amyloid angiopathy (CAA), were confirmed by genetic and neuropathological studies, and one case of CADASIL

Morphometric analysis of ultrastructural vascular changes in CADASIL: analysis of 50 skin biopsy specimens and pathogenic implications.

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a systemic vascular disease caused by Notch 3 gene mutations. On electron microscopy a specific granular osmiophilic material (GOM) is found surrounding the vascular smooth muscle cells. In 1993,

A large number of cerebral microbleeds in CADASIL patients presenting with recurrent seizures: a case report.

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy associated with the NOTCH3 gene. Clinical manifestations include strokes, transient ischaemic events, psychiatric disturbances, dementia, and migraines. We

Extensive vascular mineralization in the brain of a chimpanzee (Pan troglodytes).

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Spontaneous vascular mineralization (deposition of iron or calcium salts) has been observed in marble brain syndrome, mineralizing microangiopathy, hypothyroidism, Fahr syndrome, Sturge-Weber syndrome, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, and

Progressive central and peripheral demyelinating disease of adult onset in a Norwegian family.

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OBJECTIVE To describe the clinical features of a Norwegian family with a combined central and peripheral demyelinating disease. METHODS Multiple case report. METHODS Three generations of a Norwegian family. Medical records were available for all 9 members of the second generation and 5 affected

Genetics of Migraine: Insights into the Molecular Basis of Migraine Disorders.

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Migraine is a complex, debilitating neurovascular disorder, typically characterized by recurring, incapacitating attacks of severe headache often accompanied by nausea and neurological disturbances. It has a strong genetic basis demonstrated by rare migraine disorders caused by mutations in single
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