Mitochondrial membrane protein associated neurodegenration: A novel variant of neurodegeneration with brain iron accumulation

被引：36

作者：

Schulte, Eva C. ^{[1
,2
,3
]}

Claussen, Malte C. ^{[1
]}

Jochim, Angela ^{[1
]}

Haack, Tobias ^{[2
,3
]}

Hartig, Monika ^{[2
,3
]}

Hempel, Maja ^{[2
,3
]}

Prokisch, Holger ^{[2
,3
]}

Haun-Juenger, Ursula ^{[4
]}

Winkelmann, Juliane ^{[1
,2
,3
]}

Hemmer, Bernhard ^{[1
]}

Foerschler, Annette ^{[5
]}

Ilg, Ruediger ^{[1
]}

机构：

[1] Tech Univ Munich, Klinikum Rechts Isar, Neurol Klin & Poliklin, D-81675 Munich, Germany

[2] Helmholtz Zentrum Munchen, Inst Humangenet, Munich, Germany

[3] Tech Univ Munich, Klinikum Rechts Isar, Inst Humangenet, D-81675 Munich, Germany

[4] Klinikum Bremen Mitte, Sozialpadiatr Zentrum, Bremen, Germany

[5] Tech Univ Munich, Klinikum Rechts Isar, Abt Neuroradiol, D-81675 Munich, Germany

来源：

MOVEMENT DISORDERS | 2013年 / 28卷 / 02期

关键词：

neurodegeneration with brain iron accumulation (NBIA); genetics; MRI; mitochondrial membrane protein-associated neurodegeneration (MPAN); C19orf12; HALLERVORDEN-SPATZ-SYNDROME; DYSTONIA; PANK2;

D O I：

10.1002/mds.25256

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background Recently, mutations in an open-reading frame on chromosome 19 (C19orf12) were identified as a novel genetic factor in neurodegeneration with brain iron accumulation (NBIA). Because of the mitochondrial localization of the derived protein, this variant is referred to as mitochondrial membrane protein-associated neurodegeneration with brain iron accumulation (MPAN). Methods/Results We describe the clinical phenotype and MRI of 3 newly identified individuals with MPAN due to either previously reported or novel homozygous or compound heterozygous genetic alterations in C19orf12. Conclusions MPAN is characterized by a juvenile-onset, slowly progressive phenotype with predominant lower limb spasticity, generalized dystonia, and cognitive impairment. Typical additional features include axonal motor neuropathy and atrophy of the optic nerve. MRI showed iron deposition in the globus pallidus and substantia nigra without the eye-of-the-tiger sign, which is typical for PKAN, the most frequent form of NBIA. (c) 2012 Movement Disorder Society

引用

页码：224 / 227

页数：4

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