Linked Life Data

9311004

Source:http://linkedlifedata.com/resource/pubmed/id/9311004

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
1998-1-9
pubmed:abstractText
In a familial amyotrophic lateral sclerosis (FALS) with SOD-1 mutation (Asn 86-Ser), there were intra-familial clinical diversities. The proband, a daughter patient, shows a mild clinical course of 16 years. Her father died of respiratory failure in 3 years. His initial symptom was weakness of upper extremity. The daughter's first symptom was that of lower extremities. Her respiratory-assist started after 9 years from the onset. She is alive under whole-day respiratory assist while she had been taking nutrients per os for 15 years. Her abilities of swallowing remain, even more dependent of tube-feeding (15 years after the onset). The fact of the presence of intra-familial clinical varieties with SOD-1 mutation in FALS suggests that the mutation is not an exclusive factor to determine the clinical phenotype, age of the onset and rapidity of illness of FALS associated with SOD-1 mutation. We collect reports of FALS with SOD-1 mutation which have similar diversities of intra-familial clinical manifestations as our family. Varieties of intra-familial clinical manifestations of motor neuron disease are shown in 9 families with SOD-1 mutation. The genetic error appears to have a limit, and is not a exclusive cause of FALS. However, we should not underestimate the significance of the discovery of a gene, since it might offer a clue to still unanswered riddle of ALS pathogenesis.
pubmed:language
jpn
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0006-8969
pubmed:author
pubmed:issnType
Print
pubmed:volume
49
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
847-51
pubmed:dateRevised
2007-2-22
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
[On intra-familial clinical diversities of a familial amyotrophic lateral sclerosis with a point mutation of Cu/Zn superoxide dismutase (Asn 86-Ser].
pubmed:affiliation
Department of Neurology, Aomori Prefectural Central Hospital, Japan.
pubmed:publicationType
Journal Article, English Abstract, Review, Case Reports