A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment

A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment

•A novel missense variant in AIFM1 was demonstrated in a Japanese patient.•Cardinal clinical features contained ataxic sensory neuronopathy and hearing impairment.•Impairment of OXPHOS was shown by aerobic exercise test.•No histopathological finding associated with mitochondrial dysfunction was show...

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Veröffentlicht in:Journal of the neurological sciences 2020-02, Vol.409, p.116584, Article 116584
Hauptverfasser: Kawarai, Toshitaka, Yamazaki, Hiroki, Yamakami, Kei, Tsukamoto-Miyashiro, Ai, Kodama, Mizuki, Rumore, Roberto, Caltagirone, Carlo, Nishino, Ichizo, Orlacchio, Antonio
Format: Artikel
Sprache:eng
Schlagworte:
AIFM1
Apoptosis Inducing Factor - genetics
Asian Continental Ancestry Group - genetics
Ataxic sensory neuronopathy
Broad clinical and histopathological variations
Gait Ataxia - complications
Gait Ataxia - diagnosis
Gait Ataxia - genetics
Hearing impairment
Hearing Loss - complications
Hearing Loss - diagnosis
Hearing Loss - genetics
Humans
Male
Middle Aged
Mutation, Missense - genetics
Novel missense variation
Polyneuropathies - complications
Polyneuropathies - diagnosis
Polyneuropathies - genetics
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Beschreibung
Zusammenfassung:•A novel missense variant in AIFM1 was demonstrated in a Japanese patient.•Cardinal clinical features contained ataxic sensory neuronopathy and hearing impairment.•Impairment of OXPHOS was shown by aerobic exercise test.•No histopathological finding associated with mitochondrial dysfunction was shown.•A broad phenotypic and histopathological variations can be seen in AIFM1-related disease.
ISSN:0022-510X
1878-5883
DOI:10.1016/j.jns.2019.116584