NDLI: Spinocerebellar ataxia type 15

Content Provider	Springer Nature Link
Author	Gardner, R. J. Mckinlay Knight, Melanie A. Hara, Kenju Tsuji, Shoji Forrest, Susan M. Storey, Elsdon
Copyright Year	2005
Abstract	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.
Starting Page	47
Ending Page	50
Page Count	4
File Format	PDF
ISSN	14734222
Journal	The Cerebellum
Volume Number	4
Issue Number	1
e-ISSN	14734230
Language	English
Publisher	Springer-Verlag
Publisher Date	2005-01-01
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Cerebellar ataxia SCA15 Neurosciences Neurobiology Neurology
Content Type	Text
Resource Type	Article
Subject	Neurology Neurology (clinical)

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Spinocerebellar ataxia type 15