Clinical features of SCA36

Ikeda, Yoshio; Ohta, Yasuyuki; Kobayashi, Hatasu; Okamoto, M.; Takamatsu, Kazuhiro; Ota, Taisei; Manabe, Yasuhiro; Okamoto, Koichi; Koizumi, Akio; Abe, Kōji

doi:10.1212/wnl.0b013e318260436f

Cited by 80 publications

(59 citation statements)

References 17 publications

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“…It is notable that the UGGGCC repeats of the SCA36 expansion are similar to the GGGGCC repeats from C9 and thus would also presumably form G-Q structures and associate with a similar set of RBPs, although this has not been investigated. SCA36 presents as a "pure" SCA marked by ataxia and cerebellar degeneration as well as progressive loss of upper and lower MNs, which separates it from other SCAs that are predominantly cerebellar and suggests that SCA36 is a disorder at the intersection of SCA and MN disease (Ikeda et al 2012). Despite loss of MNs from the anterior horn of the spinal cord, TDP-43 inclusions were not detected in surviving neurons of affected individuals, further differentiating this disorder from ALS (Ikeda et al 2012).…”

Section: Rna-centric Mechanisms In C9orf72 Als-ftdmentioning

confidence: 96%

RNA-binding proteins in neurodegeneration: mechanisms in aggregate

2017

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Neurodegeneration is a leading cause of death in the developed world and a natural, albeit unfortunate, consequence of longer-lived populations. Despite great demand for therapeutic intervention, it is often the case that these diseases are insufficiently understood at the basic molecular level. What little is known has prompted much hopeful speculation about a generalized mechanistic thread that ties these disparate conditions together at the subcellular level and can be exploited for broad curative benefit. In this review, we discuss a prominent theory supported by genetic and pathological changes in an array of neurodegenerative diseases: that neurons are particularly vulnerable to disruption of RNA-binding protein dosage and dynamics. Here we synthesize the progress made at the clinical, genetic, and biophysical levels and conclude that this perspective offers the most parsimonious explanation for these mysterious diseases. Where appropriate, we highlight the reciprocal benefits of cross-disciplinary collaboration between disease specialists and RNA biologists as we envision a future in which neurodegeneration declines and our understanding of the broad importance of RNA processing deepens.

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Section: Rna-centric Mechanisms In C9orf72 Als-ftdmentioning

confidence: 96%

RNA-binding proteins in neurodegeneration: mechanisms in aggregate

2017

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“…The 9 Asidan families showed a significant founder effect. Clinical and neuropathological features in these families were reported in elsewhere [5].…”

Section: Discussionmentioning

confidence: 94%

“…After obtaining informed consent, genomic DNAs of cases in dominantly inherited ataxia families were extracted from peripheral blood leukocytes, and screened for CAG triplet dynamic mutations in spinocerebellar ataxia (SCA) types 1-3, 6-8, and dentatorubral and pallidoluysian atrophy (DRPLA) using a method described in our previous reports [5,7,8]. A diagnosis of SCA31/16q-ADCA is investigated by confirming both an insertion of (TGGAA)n by long PCR analysis, and a C-to-T substitution at 5′ UTR of the puratrophin-1 gene by conventional PCR-based restriction fragment length polymorphism (RFLP) analysis as reported in elsewhere [9].…”

Section: Methodsmentioning

confidence: 99%

“…This Asidan/ SCA36 frequently displays unique clinical features involving cerebellum and motor neurons characteristically found in the tongue and limbs [5]. Here, we present the results of audiogram and brainstem auditory evoked potentials (BAEPs) of Asidan/SCA36 patients in comparison to normal controls, CCA, MSA-C, SCA31, and other forms of SCAs to investigate sensorineural hearing loss that was frequently found in our Asidan/SCA36 patients.…”

Section: Introductionmentioning

confidence: 97%

“…We recently identified a novel type of SCA, which is named SCA36 or Asidan and is caused by a hexanucleotide GGCCTG repeat expansion in intron 1 of the nucleolar protein 56 (NOP56) gene [4][5][6]. This Asidan/ SCA36 frequently displays unique clinical features involving cerebellum and motor neurons characteristically found in the tongue and limbs [5].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Acoustic impairment is a distinguishable clinical feature of Asidan/SCA36

Ikeda

Ohta

Kurata

et al. 2013

Journal of the Neurological Sciences

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Genetic Movement Disorders Commonly Seen in Asians

Jagota

Lim

Pal

et al. 2023

Movement Disord Clin Pract

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The increasing availability of molecular genetic testing has changed the landscape of both genetic research and clinical practice. Not only is the pace of discovery of novel disease-causing genes accelerating but also the phenotypic spectra associated with previously known genes are expanding. These advancements lead to the awareness that some genetic movement disorders may cluster in certain ethnic populations and genetic pleiotropy may result in unique clinical presentations in specific ethnic groups. Thus, the characteristics, genetics and risk factors of movement disorders may differ between populations. Recognition of a particular clinical phenotype, combined with information about the ethnic origin of patients could lead to early and correct diagnosis and assist the development of future personalized medicine for patients with these disorders. Here, the Movement Disorders in Asia Task Force sought to review genetic movement disorders that are commonly seen in Asia, including Wilson's disease, spinocerebellar ataxias (SCA) types 12, 31, and 36, Gerstmann-Sträussler-Scheinker disease, PLA2G6-related parkinsonism, adult-onset neuronal intranuclear inclusion disease (NIID), and paroxysmal kinesigenic dyskinesia. We also review common disorders seen worldwide with specific mutations or presentations that occur frequently in Asians.

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Clinical features of SCA36

Abstract: This is the first description of the unique clinical features of SCA36, a relatively pure cerebellar ataxia with progressive motor neuron involvement. Thus, SCA36 is a disease that stands at the crossroads of SCA and motor neuron disease.

Cited by 80 publications

References 17 publications

RNA-binding proteins in neurodegeneration: mechanisms in aggregate

RNA-binding proteins in neurodegeneration: mechanisms in aggregate

Acoustic impairment is a distinguishable clinical feature of Asidan/SCA36

Genetic Movement Disorders Commonly Seen in Asians

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