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  • Title: Hereditary motor and sensory neuropathy (HMSN) and optic atrophy (HMSN type VI, Vizioli).
    Author: Weiller C, Ferbert A.
    Journal: Eur Arch Psychiatry Clin Neurosci; 1991; 240(4-5):246-9. PubMed ID: 1647219.
    Abstract:
    Clinical and electrophysiological findings are described in three patients with hereditary motor and sensory neuropathy in association with optic atrophy (HMSN VI). The optic atrophy was of the Leber type in a 15-year-old boy. In a 70-year-old patient, as in three members of his family, optic atrophy was associated with tapetoretinal degeneration. In addition to HMSN and optic atrophy a 20-year-old man suffered from sensorineural deafness. Electrophysiological studies indicated a neuronal form of neuropathy, as in HMSN II. Brainstem auditory evoked potentials also revealed subclinical involvement of the central auditory pathways in the patients without hearing defects.
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