Atypical Parkinsonism-Dystonia Syndrome Caused by a Novel DJ1 Mutation

被引：10

作者：

Bras, Jose M. ^{[1
]}

Guerreiro, Rita J. ^{[1
]}

Teo, James T. H. ^{[2
]}

Darwent, Lee ^{[1
]}

Vaughan, Jenny ^{[2
]}

Molloy, Sophie ^{[2
]}

Hardy, John ^{[1
]}

Schneider, Susanne A. ^{[2
,3
]}

机构：

[1] UCL, Inst Neurol, Dept Mol Neurosci, London, England

[2] Charing Cross Hosp, Imperial Coll Healthcare NHS Trust, Dept Clin Neurosci, London, England

[3] Univ Kiel, Dept Neurol, Arnold Heller Str 3, D-24105 Kiel, Germany

来源：

MOVEMENT DISORDERS CLINICAL PRACTICE | 2014年 / 1卷 / 01期

基金：

英国惠康基金;

关键词：

atypical parkinsonism; genetic; DJ1; PARK7; exome sequencing;

D O I：

10.1002/mdc3.12008

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a sporadic case of atypical parkinsonism-dystonia of subacute onset at the age of 16 years in a male from a consanguineous family. He showed marked orofacial dystonia, levodopa- induced dyskinesia, and a stereotyped bilateral eye-pressing movement disorder. We combined Sanger sequencing of candidate genes, homozygosity mapping, and whole-exome sequencing. A homozygous mutation was identified disrupting a splice site in exon 5 of the DJ1 (PARK7) gene. Clinical details and a video are provided. DJ1 mutations are a rare cause of atypical complex parkinsonism. Exome sequencing is efficacious in identifying the causal gene variant.

引用

页码：45 / 49

页数：5

共 50 条

[1] PARKINSONISM-DYSTONIA SYNDROME AND ECT
LAUTERBACH, EC
MOORE, NC
AMERICAN JOURNAL OF PSYCHIATRY, 1990, 147 (09): : 1249 - 1250
[2] A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family
Hanagasi, Hasmet A.
Giri, Anamika
Kartal, Ece
Guven, Gamze
Bilgic, Basar
Hauser, Ann-Kathrin
Emre, Murat
Heutink, Peter
Basak, Nazh
Gasser, Thomas
Simon-Sanchez, Javier
Lohmann, Ebba
PARKINSONISM & RELATED DISORDERS, 2016, 29 : 117 - 120
[3] A novel homozygous DJ1 mutation causes Parkinsonism and ALS in a Turkish family
Hanagasi, H. A.
Giri, A.
Guven, G.
Bilgic, B.
Hauser, A. -K.
Emre, M.
Heutink, P.
Basak, N.
Gasser, T.
Simon-Sanchez, J.
Lohmann, E.
MOVEMENT DISORDERS, 2016, 31 : S206 - S206
[4] Juvenile onset parkinsonism-dystonia syndrome: A novel mutation in the SLC6A3 gene
Abusrair, A.
Bohlega, S.
Wakil, S.
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2019, 405
[5] Molybdenum cofactor deficiency presenting with a parkinsonism-dystonia syndrome
Alkufri, Fadi
Harrower, Tim
Rahman, Yusof
Hughes, Elaine
Mundy, Helen
Knibb, Jonathan A.
Moriarty, John
Connor, Stephen
Samuel, Michael
MOVEMENT DISORDERS, 2013, 28 (03) : 399 - 400
[6] HEREDITARY PARKINSONISM-DYSTONIA SYNDROME OF JUVENILE ONSET WITH DIURNAL FLUCTUATIONS
DESTEE, A
DEFEBVRE, L
DELISSE, B
GUIEU, JD
REVUE NEUROLOGIQUE, 1991, 147 (03) : 220 - 224
[7] Gene therapy for Dopamine transporter deficiency syndrome: Infantile Parkinsonism-dystonia
Ng, J.
Barral, S.
Barrigon, C. de la Fuente
Lignani, G.
Erdem, F.
Wallings, R.
Privolizzi, R.
Rossignoli, G.
Al Rashidi, H.
Heasman, S.
Meyer, E.
Ngoh, A.
Pope, S.
Karda, R.
Perocheau, D.
Baruteau, J.
Suff, N.
Diaz, J. A. Antinao
Vowles, J.
Cowley, S. A.
Friessmuth, M.
Sucic, S.
Counsell, J.
Wade-Martins, R.
Heales, S. J. R.
Rahim, A. A.
Bencze, M.
Waddington, S. N.
Kurian, M. A.
HUMAN GENE THERAPY, 2021, 32 (19-20) : A50 - A50
[8] Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia
Aguilar, Jenny, I
Cheng, Mary Hongying
Font, Josep
Schwartz, Alexandra C.
Ledwitch, Kaitlyn
Duran, Amanda
Mabry, Samuel J.
Belovich, Andrea N.
Zhu, Yanqi
Carter, Angela M.
Shi, Lei
Kurian, Manju A.
Fenollar-Ferrer, Cristina
Meiler, Jens
Ryan, Renae Monique
Mchaourab, Hassane S.
Bahar, Ivet
Matthies, Heinrich J. G.
Galli, Aurelio
ELIFE, 2021, 10
[9] Atypical, Early-Onset Dystonia-Parkinsonism with Oculogyric Crises and Anterior Horn Cell Disorder Due to a Novel DJ-1 Mutation
Desai, Karan
Agrawal, Shruti
Walzade, Priyanka
Ravat, Sangeeta H.
Agarwal, Pankaj A.
MOVEMENT DISORDERS CLINICAL PRACTICE, 2021, 8 : S16 - S18
[10] Commentary: Atypical, Early-Onset Dystonia-Parkinsonism with Oculogyric Crises and Anterior Horn Cell Disorder due to a Novel DJ-1 Mutation
Reich, Stephen G.
Desai, Karan
Agrawal, Shruti
Walzade, Priyanka
Ravat, Sangeeta
Agarwal, Pankaj A.
Espay, Alberto J.
MOVEMENT DISORDERS CLINICAL PRACTICE, 2021, 8 : S19 - S20

← 1 2 3 4 5 →