NDLI: Recent progress in spinocerebellar ataxia type-10 (SCA10)

Content Provider	Springer Nature Link
Author	Lin, Xi Ashizawa, Tetsuo
Copyright Year	2005
Abstract	Spinocerebellar ataxia type 10 (SCA10) is a dominantly inherited ataxia caused by expansion of ATTCT pentanucleotide repeat in intron 9 of a novel gene, E46L, on chromosome 22q13.3. SCA10 is a complex neurodegenerative condition. Initial studies characterized SCA10 as pure cerebellar ataxia associated with seizures. Recent identification of new SCA10 families revealed more diverse phenotypes, including polyneuropathy, pyramidal signs, cognitive and neuropsychiatric impairment. Moreover, several families manifest with ataxia without seizures. Thus a complete clinical spectrum is emerging. Progress has also been made in understanding the molecular and genetic mechanisms of pathogenesis. The length of expanded ATTCT repeats is variable in different tissues and highly unstable during paternal transmission, revealing complex genetic and pathogenetic processes. Under torsional stress, ATTCT repeats form unpaired DNA structure and may serve as an erroneous DNA replication origin, potentially contributing to repeat instability and aberrant cell cycle entry. E46L is a cytoplasmic protein with unknown function. Reduced expression of E46L in primary neuronal cultures from cerebellum and cortex by small interfering RNAs (siRNAs) caused increased apoptosis, raising the possibility that reduced expression of E46L might also play an important role in SCA10 pathogenesis.
Starting Page	37
Ending Page	42
Page Count	6
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	Spinocerebellar ataxia seizure anticipation repeat instability DNA replication Neurosciences Neurobiology Neurology
Content Type	Text
Resource Type	Article
Subject	Neurology Neurology (clinical)

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