Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030567 (Parkinson's disease)
 63,064 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Amyloid deposits of the CNS caused clinical symptoms in four members of a Hungarian family. Histological investigations revealed a systemic disease, immunohistologically the deposited material was a transthyretin variant, DNA analysis showed a new transthyretin mutation (TTRAsp 18Gly). The disease--named meningocerebrovascular amyloidosis, Hungarian type--is inherited dominantly like other already known familial amyloidoses caused by transthyretin variants, however it does not cause the usual familial polyneuropathy but symptoms similar to those of the rare oculoleptomeningeal amyloidosis. The aim of the present study is to point to differential diagnosis. Its complaints, neurological signs and clinical findings which may be suspect of atypical migraine, brain tumour, chronic leptomeningitis or herpes encephalitis, multiple sclerosis and Parkinson disease are analysed and compared with those of other known types of familial amyloidoses. Attention is drawn to symmetrical calcification on CT scans. Skin biopsy may help the diagnosis. At present, therapy is only symptomatic.
 ...
PMID:[Clinical characteristics of Hungarian-type familial meningo-cerebrovascular amyloidosis]. 899 35