title: Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin E deficiency with a novel c.717 del C mutation in the TTPA gene.
abstract: Ataxia with isolated vitamin E deficiency (AVED) is a neurodegenerative disease caused by a mutation in the α-tocopherol transfer protein gene (TTPA). The clinical features of the disease resemble Friedreich's ataxia. However, AVED is associated with low plasma vitamin E levels, which results in compromised antioxidant function. Dysregulation of this lipid-soluble antioxidant vitamin plays a major role in the neurodegeneration observed in AVED. Some AVED patients experience decreased visual acuity. Retinitis pigmentosa is thought to be the main cause of this visual impairment. Although antioxidant levels are important for the prevention of macular degeneration, there have been no reports of macular degeneration in AVED. Here, we describe a patient with AVED with progressive macular degeneration, who carried a novel truncating mutation-c.717 del C (p.D239EfsX25)-in exon 5 of the TTPA gene. These findings suggest that this newly identified mutation results in severely low serum vitamin E levels, which may be associated with the development of retinitis pigmentosa and macular degeneration.
authors: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Japan. Electronic address: neuiwasa@med.kanazawa-u.ac.jp.
authors: Kazuo
authors: K
authors: Iwasa
authors: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Japan. Electronic address: k-shima@solid.ocn.ne.jp.
authors: Keisuke
authors: K
authors: Shima
authors: Department of Neurology, National Hospital Organization Iou National Hospital, Japan. Electronic address: komai@ioudom.hosp.go.jp.
authors: Kiyonobu
authors: K
authors: Komai
authors: Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Japan. Electronic address: y-nishica.nuro@tmd.ac.jp.
authors: Yoichiro
authors: Y
authors: Nishida
authors: Department of Neurology and Neurological Science, Tokyo Medical and Dental University, Japan. Electronic address: tak-yokota.nuro@tmd.ac.jp.
authors: Takanori
authors: T
authors: Yokota
authors: Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, Japan. Electronic address: yamada@med.kanazawa-u.ac.jp.
authors: Masahito
authors: M
authors: Yamada
mesh_terms: D001259:Ataxia / Q000150:complications* / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008268:Macular Degeneration / Q000209:etiology*; D008875:Middle Aged; D012174:Retinitis Pigmentosa / Q000209:etiology*; D014811:Vitamin E Deficiency / Q000150:complications* / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; C017763:alpha-tocopherol transfer protein
keywords: Alpha-tocopherol transfer protein; Ataxia; Macular degeneration; Retinitis pigmentosa; TTPA gene mutation; Vitamin E deficiency