Neurology Specific Literature Search   
 
[home][thesaurus]
    
Click Here to return To Results

 

The Phenotypic Spectrum of CADASIL:Clinical Findings in 102 Cases,
Ann Neurol 44:731-739,715, Dichgans,M.,et al, 1998
See this aricle in Pubmed

Article Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an increasingly recognized autosomal dominant disorder that leads to cerebrovascular manifestations in early adulthood. This study delineates the phenotypic spectrum and the natural history of the disease in 102 affected individuals from 29 families with biopsy proven CADASIL. Recurrent ischemic episodes (transient ischemic attack (TIA or stroke) were the most frequent presentation found in 71% of the cases (mean age at onset, 46.1 years; range, 30-66 years; SD, 0.0 years). Forty-eight percent of the cases had developed cognitive deficits. Dementia (28%) was frequently accompanied by gait disturbance (90%), urinary incontinence (86%), and pseudobulbar palsy (52%). Thirty-nine patients (38%) had a history of migraine (mean age at onset, 26.0 years; SD, 8.2 years), which was classified as migraine with aura in 87% of the cases. Psychiatric disturbances were present in 30% of the cases, with adjustment disorder (24%) being the most frequent diagnosis. Ten patients (10%) had a history of epileptic seizures. To delineate the functional consequences of ischemic deficits, we studies the extent of disability in different age groups. The full spectrum of disability was seen in all groups older than 45. Fifty-five percent of the patients older than age 60 were unable to walk without assistance. However, 14% in this age group exhibited no disability at all. Kaplan-Meier analysis disclosed median survival times of 64 years (males) and 69 years (females). An investigation of the 18 multiplex families revealed marked intrafamilial variations.
 
Related Tags
(click to filter results - removes previous filter)

cerebral autosomal dominate arteriopathy with subcortical infarction and leukoencephalopathy
cerebrovascular accident
cerebrovascular accident,recurrent
cerebrovascular accident,young adult
dementia
familial
gait disorder
genetic neurologic disorders
migraine
misdiagnosis
multiple sclerosis
multiple sclerosis,differential diagnosis of
multiple sclerosis,misdiagnosis
prognosis
pseudobulbar palsy
psychiatric disorder
psychiatric problems in neurologic disorders
review article
seizure
transient ischemic attack
transient ischemic attack,recurrent
urinary incontinence
vasculopathy

Click Here to return To Results