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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 22, 2021 - Issue 7-8
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Brief Reports

Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations

Hiroya Naruse1 Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, JapanView further author information
,
Hiroyuki Ishiura1 Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, JapanView further author information
,
Jun Mitsui1 Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan;2 Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, JapanView further author information
,
Yuji Takahashi3 Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan, andView further author information
,
Takashi Matsukawa1 Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan;2 Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, JapanView further author information
,
Tatsushi Toda1 Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, JapanView further author information
&
Shoji Tsuji2 Department of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan;4 Institute of Medical Genomics, International University of Health and Welfare, Chiba, JapanCorrespondence[email protected]
View further author information
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Pages 576-578 | Received 05 Jul 2020, Accepted 17 Aug 2020, Published online: 01 Sep 2020

References

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  • Naruse H, Ishiura H, Mitsui J, Takahashi Y, Matsukawa T, Tanaka M, et al. Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS. J Neurol Neurosurg Psychiatry. 2019;90:537–42.
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  • Gros-Louis F, Dupre N, Dion P, Fox MA, Laurent S, Verreault S, et al. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet. 2007;39:80–5.
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  • Izumi Y, Miyamoto R, Morino H, Yoshizawa A, Nishinaka K, Udaka F, et al. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Neurology. 2013;80:600–1.
  • Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmuller C, Baets J, et al. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. Brain. 2016;139:1378–93.
  • Özoğuz A, Uyan Ö, Birdal G, Iskender C, Kartal E, Lahut S, et al. The distinct genetic pattern of ALS in Turkey and novel mutations. Neurobiol Aging. 2015;36:1764.e9–18.

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