A 30-year history of MPAN case from Russia

被引：12
作者：
Selikhova, M. [3 ]
Fedotova, E. [1 ]
Wiethoff, S. [2 ]
Schottlaender, L. V. [2 ]
Klyushnikov, S. [1 ]
Illarioshkin, S. N. [1 ]
Houlden, H. [2 ]
机构：
[1] Res Ctr Neurol, Dept Neurogenet, Moscow, Russia
[2] UCL, Inst Neurol, Dept Mol Neurosci, London, England
[3] UCL, Reta Lila Weston Inst Neurol Studies, 1 Wakefield St, London WC1N 1PJ, England
来源：
CLINICAL NEUROLOGY AND NEUROSURGERY | 2017年 / 159卷
关键词：
Spastic ataxia; C19orf12; TruSight panels; NBIA; BRAIN IRON ACCUMULATION; NEURODEGENERATION; MUTATIONS; C19ORF12; SUBTYPE; PANK2;
D O I：
10.1016/j.clineuro.2017.05.025
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30 year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders, particularly the anarthric NBIA group.
引用
收藏
页码：111 / 113
页数：3
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