Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
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منابع مشابه
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?
Tyrosyl-DNA phosphodiesterase 1 (Tdp1) cleaves the phosphodiester bond between a covalently stalled topoisomerase I (Topo I) and the 3' end of DNA. Stalling of Topo I at DNA strand breaks is induced by endogenous DNA damage and the Topo I-specific anticancer drug camptothecin (CPT). The H493R mutation of Tdp1 causes the neurodegenerative disorder spinocerebellar ataxia with axonal neuropathy (S...
متن کاملMME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43)
OBJECTIVE To identify the causative gene mutation in a 5-generation Belgian family with dominantly inherited spinocerebellar ataxia and polyneuropathy, in which known genetic etiologies had been excluded. METHODS We collected DNA samples of 28 family members, including 7 living affected individuals, whose clinical records were reviewed by a neurologist experienced in ataxia. We combined linka...
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Spinocerebellar ataxias (SCAs) are a group of progressive and irreversible neurological diseases affecting gait and movement coordination. Many result from cerebellar degeneration or the impairment of a portion of the neuroaxis that contributes to cerebellar inflow or outflow (Embirucu et al., 2009). In the cerebellum, the dysfunction and death of Purkinje cells, granule cells or interneurons c...
متن کاملExome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia.
To the Editor : Spinocerebellar ataxia autosomal recessive type 10 (SCAR10, OMIM 613728) is caused by the mutation of ANO10 (1). The clinical phenotype was characterized by ataxia, hyper-reflexia, normal plantar reflex, downbeat nystagmus and lower motor neuron involvement. Here, we report a novel ANO10 mutation in a patient with autosomal recessive spinocerebellar ataxia (ARSCA), using exome s...
متن کاملDNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1.
DNA single-strand breaks (SSBs) are the commonest DNA lesions arising spontaneously in cells, and if not repaired may block transcription or may be converted into potentially lethal/clastogenic DNA double-strand breaks (DSBs). Recently, evidence has emerged that defects in the rapid repair of SSBs preferentially impact the nervous system. In particular, spinocerebellar ataxia with axonal neurop...
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ژورنال
عنوان ژورنال: The EMBO Journal
سال: 2007
ISSN: 0261-4189,1460-2075
DOI: 10.1038/sj.emboj.7601885