Cerebral autosomal dominant arteriopathy with subcortical infarts and leukoencephalopathy.(CADASIL)
Mutations of the Notch 3 gene on chromosome 19
Notch 3 gene specifies cell fate in development.
Notch 3 protein builds up in vascular smooth muscle cells which may cause degeneration and loss of blood vessel function.
Sx:
Onset in 20-40’s
Recurrent migranes with aura, TIAs, strokes, dementia, pseudobulbar palsy, hemi- or quadriplegia
Also at risk for MI
Findings:
Regions with deep perforating arteries
Affects inferior frontal lobes, anterior-inferior temporal lobes, and insula
High T2 signal in white matter-periventricular, basal ganglia, and brainstem
Subcortical u fibers
No mention of spinal cord lesions
Total lesion volume closely correlates with disability. White matter abnormalities usually appear two decades before onset of disease.
Ddx
Multiple Sclerosis
Binswanger’s disease (hypertensive artriosclerotic leukoencephalopathy)
PML
Mitochondrial disorders
Cerebral angeitis
No treatment, mean age of death is 59
Mutations of the Notch 3 gene on chromosome 19
Notch 3 gene specifies cell fate in development.
Notch 3 protein builds up in vascular smooth muscle cells which may cause degeneration and loss of blood vessel function.
Sx:
Onset in 20-40’s
Recurrent migranes with aura, TIAs, strokes, dementia, pseudobulbar palsy, hemi- or quadriplegia
Also at risk for MI
Findings:
Regions with deep perforating arteries
Affects inferior frontal lobes, anterior-inferior temporal lobes, and insula
High T2 signal in white matter-periventricular, basal ganglia, and brainstem
Subcortical u fibers
No mention of spinal cord lesions
Total lesion volume closely correlates with disability. White matter abnormalities usually appear two decades before onset of disease.
Ddx
Multiple Sclerosis
Binswanger’s disease (hypertensive artriosclerotic leukoencephalopathy)
PML
Mitochondrial disorders
Cerebral angeitis
No treatment, mean age of death is 59
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