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Article

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.

Journal of human genetics - 1 Apr 2015

Kunii Misako, Doi Hiroshi, Higashiyama Yuichi, Kugimoto Chiharu, Ueda Naohisa, Hirata Junichi, Tomita-Katsumoto Atsuko, Kashikura-Kojima Mari, Kubota Shun, Taniguchi Midori, Murayama Kei, Nakashima Mitsuko, Tsurusaki Yoshinori, Miyake Noriko, Saitsu Hirotomo, Matsumoto Naomichi, Tanaka Fumiaki

Abstract excerpt

Mitochondrial complex III (CIII) deficiency comprises a group of complex and heterogeneous genetic disorders. TTC19 mutations constitute a rare cause of CIII deficiency and are associated with neurological disorders in childhood and adulthood. Herein, we describe a 27-year-old Japanese man with cerebellar ataxia, spastic paraparesis, loss of deep sensation, mild frontal lobe dysfunction and transient psychiatric...

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PMID: 25652355
DOI: 10.1038/jhg.2015.7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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