TY - JOUR
T1 - Spinocerebellar ataxia type 15
AU - Storey, Elsdon
AU - Gardner, R. J.Mckinlay
PY - 2011
Y1 - 2011
N2 - Spinocerebellar ataxia type 15 (SCA15), first described in 2001, is a slowly progressive, relatively pure dominantly inherited ataxia. Six pedigrees have been reported to date, in Anglo-Celtic and Japanese populations. Other than notably slow progression, its main distinguishing characteristic is tremor, often affecting the head, which is seen in about half of affecteds and which may be the presenting feature. Neuroradiology shows cerebellar atrophy, particularly affecting the anterior and dorsal vermis. SCA15 is due to various deletions of the inositol 1,4,5-triphosphate receptor 1 gene (ITPR1) on the distal short arm of chromosome 3. The potential of point mutations in ITPR1 to cause SCA15 is not yet confirmed. "SCA16" has now been shown to be due to an ITPR1 mutation, and has now been subsumed into SCA15.
AB - Spinocerebellar ataxia type 15 (SCA15), first described in 2001, is a slowly progressive, relatively pure dominantly inherited ataxia. Six pedigrees have been reported to date, in Anglo-Celtic and Japanese populations. Other than notably slow progression, its main distinguishing characteristic is tremor, often affecting the head, which is seen in about half of affecteds and which may be the presenting feature. Neuroradiology shows cerebellar atrophy, particularly affecting the anterior and dorsal vermis. SCA15 is due to various deletions of the inositol 1,4,5-triphosphate receptor 1 gene (ITPR1) on the distal short arm of chromosome 3. The potential of point mutations in ITPR1 to cause SCA15 is not yet confirmed. "SCA16" has now been shown to be due to an ITPR1 mutation, and has now been subsumed into SCA15.
UR - https://www.scopus.com/pages/publications/79961165120
U2 - 10.1016/B978-0-444-51892-7.00037-1
DO - 10.1016/B978-0-444-51892-7.00037-1
M3 - Article
C2 - 21827915
SN - 0072-9752
VL - 103
SP - 561
EP - 565
JO - Handbook of Clinical Neurology
JF - Handbook of Clinical Neurology
ER -