|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
1997-3-20
|
|
pubmed:abstractText |
Dominantly inherited ataxias resulting from different gene mutations are difficult to distinguish based on clinical phenotypes. We believe the phenotypic variability within families can be a clue to clinical diagnosis. We illustrate the range of phenotypes extending from levodopa-responsive extrapyramidal disease to more purely ataxic syndromes seen in two families with molecularly proven Machado-Joseph disease.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Nov
|
|
pubmed:issn |
0885-3185
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
11
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
741-3
|
|
pubmed:dateRevised |
2009-10-6
|
|
pubmed:meshHeading |
pubmed-meshheading:8914106-Adult,
pubmed-meshheading:8914106-Antiparkinson Agents,
pubmed-meshheading:8914106-Carbidopa,
pubmed-meshheading:8914106-Drug Combinations,
pubmed-meshheading:8914106-Female,
pubmed-meshheading:8914106-Genes, Dominant,
pubmed-meshheading:8914106-Humans,
pubmed-meshheading:8914106-Levodopa,
pubmed-meshheading:8914106-Machado-Joseph Disease,
pubmed-meshheading:8914106-Male,
pubmed-meshheading:8914106-Neurologic Examination,
pubmed-meshheading:8914106-Phenotype
|
|
pubmed:year |
1996
|
|
pubmed:articleTitle |
Intrafamilial variability in Machado-Joseph disease.
|
|
pubmed:affiliation |
Department of Neurology, University of Mississippi Medical Center, Jackson 39216, USA.
|
|
pubmed:publicationType |
Journal Article,
Case Reports
|
