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


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-04

AUTHORS

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

ABSTRACT

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 symptoms. Brain magnetic resonance imaging showed cerebellar atrophy and bilateral high-intensity signals in the inferior olives and regions adjacent to periaqueductal gray matter, on T2-weighted images. On whole-exome sequencing, we detected a novel homozygous frameshift mutation c.157_158dup [p.Pro54Alafs*48] in TTC19. Mitochondrial enzyme assays confirmed mild impairment of CIII enzymatic activity in lymphoblasts, which was consistent with TTC19-related CIII deficiency. His symptoms and radiological findings demonstrated an early stage or mild form of this disease, and further clarify the characteristics of patients with rare TTC19 mutations. More... »

PAGES

187-191

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2015.7

DOI

http://dx.doi.org/10.1038/jhg.2015.7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1039294224

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25652355


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