AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA TYPE 10 (SCAR10); A RARE DIAGNOSIS COURTESY 100,000 GENOME PROJECT

被引：0
|
作者：
Zafar, Hassan W. [1 ]
Gutowski, Nicholas J. [1 ]
机构：
[1] Royal Devon & Exeter Hosp, Exeter, Devon, England
来源：
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | 2019年 / 90卷 / 12期
关键词：
D O I：
10.1136/jnnp-2019-ABN-2.200
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
247
引用
收藏
页码：E68 / E69
页数：2
相关论文
共 34 条
  • [1] Widening the spectrum of spinocerebellar ataxia autosomal recessive type 10 (SCAR10)
    Asbjoernsdottir, Birna
    Henriksen, Otto Molby
    Lindquist, Suzanne
    Moller, Lisbeth Birk
    Sidaros, Annette
    Nielsen, Jorgen Erik
    BMJ CASE REPORTS, 2022, 15 (03)
  • [2] Diagnosis of autosomal recessive spinocerebellar ataxia type-10 (SCAR 10): implications for treatment
    Figueiredo, C.
    EUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 : 197 - 197
  • [3] A novel splicing mutation in ANO10 is responsible for Spinocerebellar ataxia, autosomal recessive 10 (SCAR10) in a large kindred in Northern Israel
    Khayat, Morad
    Zoubi, Olfat Aboleil
    Artul, Sleman
    Chervinsky, Elana
    Shalev, Stavit A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 189 - 189
  • [4] Autosomal recessive spinocerebellar ataxia type 10: a case report in Mexico
    Saldana, D. Gasca
    Ortiz, D. D. Avila
    Jaramillo, N. Monroy
    Alaez-Verson, C.
    Flores-Lagunes, L.
    Alaniz, P. Zamora
    Caballero, C. Dehesa
    Rodriguez, C. Fresno
    Vega-Rosas, G.
    Boll, M.
    MOVEMENT DISORDERS, 2021, 36 : S12 - S12
  • [5] Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan
    Aida, Izumi
    Ozawa, Tetsuo
    Ohta, Kentaro
    Fujinaka, Hidehiko
    Goto, Kiyoe
    Nakajima, Takashi
    INTERNAL MEDICINE, 2021, 61 (16) : 2517 - 2521
  • [6] Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant
    Norata, Davide
    Alonge, Paolo
    Grillo, Lucia
    Cali, Francesco
    Sturnio, Maurizio
    Lupica, Antonino
    Costa, Vanessa
    Brighina, Filippo
    Di Stefano, Vincenzo
    NEUROLOGICAL SCIENCES, 2024, 45 (03) : 1283 - 1286
  • [7] Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant
    Davide Norata
    Paolo Alonge
    Lucia Grillo
    Francesco Calì
    Maurizio Sturnio
    Antonino Lupica
    Vanessa Costa
    Filippo Brighina
    Vincenzo Di Stefano
    Neurological Sciences, 2024, 45 : 1283 - 1286
  • [8] Mutations in PEX10 Are a Cause of Autosomal Recessive Spinocerebellar Ataxia
    Regal, Luc
    Ebberink, Merel
    Wanders, Ronald
    Waterham, Hans
    De Meirleir, Linda
    Jaeken, Jaak
    Van Coster, Rudy
    Schrooten, Maarten
    Goemans, Nathalie
    NEUROLOGY, 2009, 72 (11) : A396 - A396
  • [9] Spinocerebellar ataxia autosomal recessive type 10 misdiagnosed as a Multiple System Atrophy Type C: a case report
    Gallo, S.
    Ory-Magne, F.
    Fabbri, M.
    EUROPEAN JOURNAL OF NEUROLOGY, 2023, 30 : 614 - 614
  • [10] Spinocerebellar Ataxia Autosomal Recessive Type 10 Misdiagnosed as a Multiple System Atrophy Type C: a Case Report
    Gallo, S.
    Fabbri, M.
    Ory-Magne, F.
    Rascol, O.
    MOVEMENT DISORDERS, 2023, 38 : S321 - S322
1234