PMID- 3165612
OWN - NLM
STAT- MEDLINE
DCOM- 19880916
LR  - 20071114
IS  - 0364-5134 (Print)
IS  - 0364-5134 (Linking)
VI  - 23
IP  - 6
DP  - 1988 Jun
TI  - Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte 
      antigen in a large kindred.
PG  - 580-4
AB  - We studied a seven-generation kindred with autosomal dominant spinocerebellar 
      ataxia (SCA) to assess linkage relationships to multiple human leukocyte antigen 
      (HLA) loci on the short arm of chromosome 6. Age at onset, clinical features, and 
      course of the disease are described. Although the mean age of onset was 34 years 
      in this family, in 6 of 41 affected individuals onset was below 15 years of age 
      and was accompanied by the unique clinical features of mental retardation and 
      rapid progression of disease. Linkage studies were performed on 93 individuals, 
      and the results show strong evidence for linkage of the SCA locus to the HLA 
      loci. A maximum logarithm of the odds score of 5.83 was found at a recombination 
      fraction of 0.12. This is the first documentation of childhood onset in the 
      HLA-linked form of SCA.
FAU - Zoghbi, H Y
AU  - Zoghbi HY
AD  - Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030.
FAU - Pollack, M S
AU  - Pollack MS
FAU - Lyons, L A
AU  - Lyons LA
FAU - Ferrell, R E
AU  - Ferrell RE
FAU - Daiger, S P
AU  - Daiger SP
FAU - Beaudet, A L
AU  - Beaudet AL
LA  - eng
GR  - 11 HD 00684/HD/NICHD NIH HHS/United States
GR  - AI 21289/AI/NIAID NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Ann Neurol
JT  - Annals of neurology
JID - 7707449
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Adult
MH  - Age Factors
MH  - Child
MH  - Female
MH  - HLA Antigens/analysis/*genetics
MH  - Humans
MH  - Male
MH  - Pedigree
MH  - Spinocerebellar Degenerations/*genetics/immunology/physiopathology
EDAT- 1988/06/01 00:00
MHDA- 1988/06/01 00:01
CRDT- 1988/06/01 00:00
PHST- 1988/06/01 00:00 [pubmed]
PHST- 1988/06/01 00:01 [medline]
PHST- 1988/06/01 00:00 [entrez]
AID - 10.1002/ana.410230609 [doi]
PST - ppublish
SO  - Ann Neurol. 1988 Jun;23(6):580-4. doi: 10.1002/ana.410230609.