PMID- 10417284
OWN - NLM
STAT- MEDLINE
DCOM- 19990820
LR  - 20181113
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 2
DP  - 1999 Aug
TI  - Autosomal dominant cerebellar ataxia type III: linkage in a large British family 
      to a 7.6-cM region on chromosome 15q14-21.3.
PG  - 420-6
AB  - Autosomal dominant cerebellar ataxia type III (ADCA III) is a relatively benign, 
      late-onset, slowly progressive neurological disorder characterized by an
      uncomplicated cerebellar syndrome. Three loci have been identified: a moderately 
      expanded CAG trinucleotide repeat in the SCA 6 gene, the SCA 5 locus on
      chromosome 11, and a third locus on chromosome 22 (SCA 10). We have identified
      two British families in which affected individuals do not have the SCA 6
      expansion and in which the disease is not linked to SCA 5 or SCA 10. Both
      families exhibit the typical phenotype of ADCA III. Using a genomewide searching 
      strategy in one of these families, we have linked the disease phenotype to marker
      D15S1039. Construction of haplotypes has defined a 7.6-cM interval between the
      flanking markers D15S146 and D15S1016, thereby assigning another ADCA III locus
      to the proximal long-arm of chromosome 15 (SCA 11). We excluded linkage of the
      disease phenotype to this region in the second family. These results indicate the
      presence of two additional ADCA III loci and more clearly define the genetic
      heterogeneity of ADCA III.
FAU - Worth, P F
AU  - Worth PF
AD  - Department of Clinical Neurology, Institute of Neurology, Queen Square, London
      WC1N 3BG, United Kingdom.
FAU - Giunti, P
AU  - Giunti P
FAU - Gardner-Thorpe, C
AU  - Gardner-Thorpe C
FAU - Dixon, P H
AU  - Dixon PH
FAU - Davis, M B
AU  - Davis MB
FAU - Wood, N W
AU  - Wood NW
LA  - eng
SI  - OMIM/109150
SI  - OMIM/164400
SI  - OMIM/164500
SI  - OMIM/183086
SI  - OMIM/183090
SI  - OMIM/600224
SI  - OMIM/603516
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Cerebellar Ataxia/*genetics
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - England
MH  - Family Health
MH  - Female
MH  - *Genes, Dominant
MH  - Genetic Heterogeneity
MH  - Genetic Linkage/*genetics
MH  - Haplotypes
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats/genetics
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - Phenotype
PMC - PMC1377940
EDAT- 1999/07/27 10:00
MHDA- 2000/03/21 09:00
CRDT- 1999/07/27 10:00
PHST- 1999/07/27 10:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/07/27 10:00 [entrez]
AID - S0002-9297(07)62058-8 [pii]
AID - 10.1086/302495 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Aug;65(2):420-6. doi: 10.1086/302495.