Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments

被引：6

作者：

Magariello, A. ^{[1
]}

Russo, C. ^{[2
]}

Citrigno, L. ^{[1
]}

Zuchner, S. ^{[3
,4
]}

Patitucci, A. ^{[1
]}

Mazzei, R. ^{[1
]}

Conforti, F. L. ^{[1
]}

Ferlazzo, E. ^{[2
]}

Aguglia, U. ^{[2
,5
]}

Muglia, M. ^{[1
]}

机构：

[1] CNR, Inst Neurol Sci, I-87050 Mangone, Cosenza, Italy

[2] Bianchi Melacrino Morelli Hosp, Reg Epilepsy Ctr, Reggio Di Calabria, Italy

[3] Univ Miami, Miller Sch Med, Dept Human Genet, Miami, FL 33136 USA

[4] Univ Miami, Miller Sch Med, Hussman Inst Human Gen, Miami, FL 33136 USA

[5] Magna Graecia Univ Catanzaro, Dept Med & Surg Sci, Catanzaro, Italy

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2017年 / 372卷

关键词：

Hereditary Spastic Paraplegia; SPG35; Exome sequencing; FA2H gene; SPG35;

D O I：

10.1016/j.jns.2016.11.069

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：347 / 349

页数：3

共 45 条

[21] PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia
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[22] Reply: Complicated hereditary spastic paraplegia due to ATP13A2 mutations: what's in a name?
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BRAIN, 2017, 140
[23] Correction: PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia
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[24] Three Faces of the Same Gene: FA2H Links Neurodegeneration with Brain Iron Accumulation, Leukodystrophies, and Hereditary Spastic Paraplegias
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[25] Novel form of complicated hereditary spastic paraplegia (SPG78), due to mutations in the ATP13A2/PARK9 gene
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[26] Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia
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[27] Complicated hereditary spastic paraplegia (SPG78), due to mutations in the ATP13A2/PARK9 gene in a Bulgarian family
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[28] A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients
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[29] Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia
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[30] Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia
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