Simple idea of what this involves (most recent I've done - rather obscure I
know):
before:
Multiple subcortical infarction
(See also Cerebral autosomal dominant arteriopathy (Cadersil)
Clinical features: Dementia, memory loss, recurrent subcortical stokes,
recurrent strokes, subcortical strokes, gait disturbance, depression, mania.
References:
1 G Broe 1995 Lancet 346 919
After:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leucoencephalopathy (CADASIL) is an adult onset inherited arteriopathy.
Abnormality appears to be on chromosome 19 - the "Notch3" gene which may be
the basis of a diagnostic test in the future.
Clinical features: Stepwise subcortical dementia (31%), recurrent
subcortical stokes (84%), migraine with aura (22%), recurrent ischaemic
events (transient or permanent), spastic quadriparesis, pseudobulbar palsy
(31%), mood disorders and severe depression (20%) Mean age of onset mid
forties, but MRI abnormalities may be evident 10yrs earlier. Disease is not
associated with atherosclerosis.
Diagnosis: MRI - abnormalities in the subcortical white matter
(leukencephalopathy) and basal ganglia.
Treatment: supportive (patients and family) see dementia [link]
Family members may need genetic counselling. Penetrance (ie expression of
gene) appears complete by age 60.
References:
1 G Broe 1995 Lancet 346 919
2 Chabriat H, et al; Clinical spectrum of CADASIL: a study of seven
families. Lancet 1995; 346: 934-939
3 Anne Joutel et al; Strong clustering and stereotyped nature of Notch3
mutations in CADASIL patients; Lancet 1997;350: 1511-15
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