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Hereditary motor and sensory neuropathy Lom

Hereditary motor and sensory neuropathy Lom is the first of three novel peripheral neuropathies identified among the Roma (Gypsies). Originally described in Bulgaria, it is now known to occur across Europe and may be the most prevalent form of Charcot-Marie-Tooth disease in this ethnic group. Neuropathologically, the disease is characterised by functional deficiency of the myelinating Schwann cell and early, rapidly progressing axonal loss. The hereditary motor and sensory neuropathy Lom locus is on chromosome 8q24. The recently identified disease-causing mutation is a premature stop codon in the N-myc downstream regulated gene 1. Here we present an update of the clinical, neuropathological and genetic findings in hereditary motor and sensory neuropathy Lom.