title: Compound heterozygous intermediate MJD alleles cause cerebellar ataxia with sensory neuropathy.
abstract: Spinocerebellar degeneration (SCD) is a group of disorders characterized by progressive ataxia caused by dysfunction and atrophy of the cerebellum or its projections. Approximately one-third of SCD cases are familial SCD, the majority of which are attributed to CAG triplet repeat expansions including spinocerebellar ataxia (SCA)1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA6, SCA8, SCA12, SCA17, and dentate-rubro-pallido-luysian atrophy (DRPLA). The triplet repeat number of the alleles representing complete penetrance varies among diseases. Generally, there is a gap between the normal alleles and the complete penetrance alleles. Rarely, intermediate alleles with the repeat numbers between the abnormal and normal ranges are observed, although the implications of these intermediate alleles remain ambiguous.
authors.affiliation: Department of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Takahashi
authors.affiliation: Department of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Kanai
authors.affiliation: Department of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
authors.forename: Tomoya
authors.initials: T
authors.lastname: Taminato
authors.affiliation: Department of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
authors.forename: Shoko
authors.initials: S
authors.lastname: Watanabe
authors.affiliation: Department of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
authors.forename: Chihiro
authors.initials: C
authors.lastname: Matsumoto
authors.affiliation: Department of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Araki
authors.affiliation: Department of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Okamoto
authors.affiliation: Department of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Ogawa
authors.affiliation: Department of Neurology (Y.T., M.K., T.T., S.W., T.O., M.M.), National Center Hospital, and Department of Peripheral Nervous System Research (C.M., T.A.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo; and Department of Neurology (M.O.), Nagahama City Hospital, Japan.
authors.forename: Miho
authors.initials: M
authors.lastname: Murata