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Neurobiol Aging. 2015 Apr;36(4):1764.e9-1764.e18. doi: 10.1016/j.neurobiolaging.2014.12.032. Epub 2015 Jan 10.

The distinct genetic pattern of ALS in Turkey and novel mutations.

Author information

1
Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey.
2
Computer Engineering Department, Boğaziçi University, Istanbul, Turkey.
3
Neurology Department, Medical School, University of Massachusetts, Worcester, MA, USA.
4
Neurology Department, Istanbul Medical School, Istanbul University, Istanbul, Turkey.
5
Neurology Department, Medical School, Hacettepe University, Ankara, Turkey.
6
Neurology Department, Medical School, Çukurova University, Adana, Turkey.
7
Department of Neurology, Liv Hospital, Istanbul, Turkey.
8
Faculty of Medicine, Department of Neurology, Sakarya University, Sakarya, Turkey.
9
Neurology Department, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
10
Department of Neurology, Medical Park Izmir Hospital, Izmir, Turkey.
11
Department of Neurology, School of Medicine, Uludağ University, Bursa, Turkey.
12
Bakırköy Research and Training Hospital for Neurologic and Psychiatric Diseases, Istanbul, Turkey.
13
Department of Microbiology, Haydarpaşa Numune Education and Research Hospital, Istanbul, Turkey.
14
Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
15
Chemical and Biological Engineering Department, Koç University, Istanbul, Turkey.
16
Department of Anesthesiology and Reanimation, American Hospital, Istanbul, Turkey.
17
Department of Pathology and Laboratory Medicine, Samuel Lunenfeld Research Institute, University of Toronto, Toronto, Ontario, Canada.
18
Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), Molecular Biology and Genetics Department, Boğaziçi University, Istanbul, Turkey. Electronic address: basak@boun.edu.tr.

Abstract

The frequency of amyotrophic lateral sclerosis (ALS) mutations has been extensively investigated in several populations; however, a systematic analysis in Turkish cases has not been reported so far. In this study, we screened 477 ALS patients for mutations, including 116 familial ALS patients from 82 families and 361 sporadic ALS (sALS) cases. Patients were genotyped for C9orf72 (18.3%), SOD1 (12.2%), FUS (5%), TARDBP (3.7%), and UBQLN2 (2.4%) gene mutations, which together account for approximately 40% of familial ALS in Turkey. No SOD1 mutations were detected in sALS patients; however, C9orf72 (3.1%) and UBQLN2 (0.6%) explained 3.7% of sALS in the population. Exome sequencing revealed mutations in OPTN, SPG11, DJ1, PLEKHG5, SYNE1, TRPM7, and SQSTM1 genes, many of them novel. The spectrum of mutations reflect both the distinct genetic background and the heterogeneous nature of the Turkish ALS population.

KEYWORDS:

ALS; C9orf72; FUS; SOD1; TDP-43; Turkey

[Indexed for MEDLINE]

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