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

[1] Mutation of FA2H Underlies a Complicated Form of Hereditary Spastic Paraplegia (SPG35)
Dick, Katherine J.
Eckhardt, Matthias
Paisan-Ruiz, Coro
Alshehhi, Aisha Alkhayat
Proukakis, Christos
Sibtain, Naomi A.
Maier, Helena
Sharifi, Reza
Patton, Michael A.
Bashir, Wafa
Koul, Roshan
Raeburn, Sandy
Gieselmann, Volkmar
Houlden, Henry
Crosby, Andrew H.
HUMAN MUTATION, 2010, 31 (04) : E1251 - E1260
[2] NBIA Due to FA2H Gene Mutations Is Allelic with Hereditary Spastic Paraplegia (SPG35) and a Form of Familial Leukodystrophy
Schneider, Susanne A.
MOVEMENT DISORDERS, 2011, 26 (07) : 1195 - 1195
[3] A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: A case report with literature review
Cao, Li
Huang, Xiao-Jun
Chen, Chan-Juan
Chen, Sheng-Di
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2013, 329 (1-2) : 1 - 5
[4] Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation
Bektas, Gonca
Yesil, Gozde
Yildiz, Edibe Pembegul
Aydinli, Nur
Caliskan, Mine
Ozmen, Meral
TURKISH JOURNAL OF PEDIATRICS, 2017, 59 (03) : 329 - 334
[5] Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H
Abbas, Safdar
Brugger, Beatrice
Zubair, Muhammad
Gul, Sana
Blatterer, Jasmin
Wenninger, Julian
Rehman, Khurram
Tatrai, Benjamin
Khan, Muzammil Ahmad
Windpassinger, Christian
NEUROLOGICAL RESEARCH, 2021, 43 (02) : 133 - 140
[6] Levodopa-responsive hereditary spastic paraplegia, SPG35, due to FA2H mutations in siblings
Xing, Y.
Friedman, J. R.
MOVEMENT DISORDERS, 2016, 31 : S227 - S227
[7] Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes
Li, Yu-sheng
Mao, Cheng-yuan
Shi, Chang-he
Song, Bo
Wu, Jun
Qin, Jie
Ji, Yan
Niu, Hui-xia
Luo, Hai-yang
Shang, Dan-dan
Sun, Shi-lei
Xu, Yu-ming
JOURNAL OF CLINICAL NEUROSCIENCE, 2015, 22 (07) : 1150 - 1154
[8] Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia
Bettencourt, C.
Lopez-Sendon, J. L.
Garcia-Caldentey, J.
Rizzu, P.
Bakker, I. M. C.
Shomroni, O.
Quintans, B.
Davila, J. R.
Bevova, M. R.
Sobrido, M-J
Heutink, P.
de Yebenes, J. G.
CLINICAL GENETICS, 2014, 85 (02) : 154 - 158
[9] Novel FA2H mutation in a girl with familial spastic paraplegia
Javier Aguirre-Rodriguez, Francisco
Rodriguez Lucenilla, Maria Isabel
Alvarez-Cubero, M. J.
Mata, C.
Entrala-Bernal, C.
Fernandez-Rosado, F.
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2015, 357 (1-2) : 332 - 334
[10] Identification of a novel homozygous SPG7 mutation by whole exome sequencing in a Greek family with a complicated form of hereditary spastic paraplegia
Daoud, Hussein
Papadima, Eleni Merkouri
Bencheikh, Bouchra Ouled Amar
Katsila, Theodora
Dionne-Laporte, Alexandre
Spiegelman, Dan
Dion, Patrick A.
Patrinos, George P.
Orru, Sandro
Rouleau, Guy A.
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2015, 58 (11) : 573 - 577

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