title: A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
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.
authors: Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
authors: Misako
authors: M
authors: Kunii
authors: Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
authors: Hiroshi
authors: H
authors: Doi
authors: Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
authors: Yuichi
authors: Y
authors: Higashiyama
authors: Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
authors: Chiharu
authors: C
authors: Kugimoto
authors: Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
authors: Naohisa
authors: N
authors: Ueda
authors: Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
authors: Junichi
authors: J
authors: Hirata
authors: Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
authors: Atsuko
authors: A
authors: Tomita-Katsumoto
authors: Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
authors: Mari
authors: M
authors: Kashikura-Kojima
authors: Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
authors: Shun
authors: 0000000252914571
authors: S
authors: Kubota
authors: Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
authors: Midori
authors: M
authors: Taniguchi
authors: Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
authors: Kei
authors: K
authors: Murayama
authors: Department of Human Genetics, Yokohama City University, Yokohama, Japan.
authors: Mitsuko
authors: M
authors: Nakashima
authors: Department of Human Genetics, Yokohama City University, Yokohama, Japan.
authors: Yoshinori
authors: Y
authors: Tsurusaki
authors: Department of Human Genetics, Yokohama City University, Yokohama, Japan.
authors: Noriko
authors: N
authors: Miyake
authors: Department of Human Genetics, Yokohama City University, Yokohama, Japan.
authors: Hirotomo
authors: H
authors: Saitsu
authors: Department of Human Genetics, Yokohama City University, Yokohama, Japan.
authors: Naomichi
authors: N
authors: Matsumoto
authors: Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.
authors: Fumiaki
authors: F
authors: Tanaka
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D045222:Electron Transport Chain Complex Proteins / Q000378:metabolism; D014450:Electron Transport Complex III / Q000172:deficiency / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000175:diagnosis / Q000235:genetics; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D020336:Paraparesis, Spastic / Q000175:diagnosis / Q000235:genetics*; D010468:Perceptual Disorders / Q000175:diagnosis / Q000235:genetics*
chemical_list: D045222:Electron Transport Chain Complex Proteins; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C557528:TTC19 protein, human; D014450:Electron Transport Complex III
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