Spinocerebellar ataxia type 15.
Spinocerebellar ataxia type 15 (SCA15) was first reported in 2001 on the basis of a single large Anglo-Celtic family from Australia, the locus mapping to chromosomal region 3p24.2-3pter. The characteristic clinical feature was of very slow progression, with two affected individuals remaining ambulant without aids after over 50 years of symptoms. Head and/or upper limb action tremor, and gaze-evoked horizontal nystagmus were seen in several persons. MRI brain scans showed predominant vermal atrophy, sparing the brainstem. In 2004, a Japanese pedigree was reported, which displayed very similar clinical features to the original SCA15 family, and which mapped to an overlapping candidate region. These two families might plausibly reflect a locus homogeneity, but for the present this remains an open question.
Gardner
R J McKinlay
RJ
Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Melbourne, Australia. mac.gardner@ghsv.org.au
Knight
Melanie A
MA
Hara
Kenju
K
Tsuji
Shoji
S
Forrest
Susan M
SM
Storey
Elsdon
E
D002531:Cerebellum / Q000473:pathology; D002893:Chromosomes, Human, Pair 3; D005192:Family Health; D008040:Genetic Linkage; D006801:Humans; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D019680:Trinucleotide Repeat Expansion