Article
Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Nov 2021
Naruse Hiroya, Ishiura Hiroyuki, Mitsui Jun, Takahashi Yuji, Matsukawa Takashi, Toda Tatsushi, Tsuji Shoji
Abstract excerpt
Mutations in SYNE1 have been originally described to cause a slowly progressive, pure cerebellar ataxia (spinocerebellar ataxia, autosomal-recessive 8; SCAR8). Notably, recent studies revealed that affected patients with SYNE1-associated ataxia can present with complex phenotypes rather than pure cerebellar ataxia, including motor neuron and brainstem dysfunctions. We herein report a Japanese patient diagnosed...
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