TY - JOUR
T1 - Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia
AU - Keogh, M. J.
AU - Steele, H.
AU - Douroudis, K.
AU - Pyle, A.
AU - Duff, J.
AU - Hussain, R.
AU - Smertenko, T.
AU - Griffin, H.
AU - Santibanez-Koref, M.
AU - Horvath, R.
AU - Chinnery, P. F.
N1 - Publisher Copyright:
© 2015, The Author(s).
PY - 2015/8/18
Y1 - 2015/8/18
N2 - Sporadic late onset cerebellar ataxia is a well-described clinical presentation with a broad differential diagnosis that adult neurologists should be familiar with. However, despite extensive clinical investigations, an acquired cause is identified in only a minority of cases. Thereafter, an underlying genetic basis is often considered, even in those without a family history. Here we apply whole exome sequencing to a cohort of 12 patients with late onset cerebellar ataxia. We show that 33 % of ‘idiopathic’ cases harbor compound heterozygous mutations in known ataxia genes, including genes not included on multi-gene panels, or primarily associated with an ataxic presentation.
AB - Sporadic late onset cerebellar ataxia is a well-described clinical presentation with a broad differential diagnosis that adult neurologists should be familiar with. However, despite extensive clinical investigations, an acquired cause is identified in only a minority of cases. Thereafter, an underlying genetic basis is often considered, even in those without a family history. Here we apply whole exome sequencing to a cohort of 12 patients with late onset cerebellar ataxia. We show that 33 % of ‘idiopathic’ cases harbor compound heterozygous mutations in known ataxia genes, including genes not included on multi-gene panels, or primarily associated with an ataxic presentation.
KW - Ataxia
KW - Diagnosis
KW - Next generation sequencing
KW - Whole exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=84939252974&partnerID=8YFLogxK
U2 - 10.1007/s00415-015-7772-x
DO - 10.1007/s00415-015-7772-x
M3 - Article
C2 - 25976027
AN - SCOPUS:84939252974
SN - 0340-5354
VL - 262
SP - 1822
EP - 1827
JO - Journal of Neurology
JF - Journal of Neurology
IS - 8
ER -