ArticleTremor and other hyperkinetic movements (New York, N.Y.)2026
Progressive Axonal Neuropathy and Cerebellar Ataxia Associated with Homozygous Pathogenic
Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
We report a 41-year-old man of African descent from the Northern Minas Gerais/Jequitinhonha Valley region of Brazil - historically characterized by geographic isolation, predominantly Afro-Indigenous ancestry, and structural consanguinity - born to first-degree cousin parents, who presented with progressive axonal sensorimotor neuropathy, cerebellar ataxia, dysarthria, and oculomotor abnormalities. His sister had died with a similar untreated neurological syndrome. Three serial electroneuromyographic studies demonstrated stable chronic axonal polyneuropathy with complete bilateral absence of sural, fibular, and plantar sensory potentials, and active distal denervation. Brain MRI, unchanged over a two-year interval, showed T2/FLAIR hyperintense foci in both cerebellar hemispheres and the right middle cerebellar peduncle with cerebellar atrophy, without diffusion restriction or contrast enhancement. Next-generation sequencing (NGS; Mendelics®; 101-gene hereditary neuropathy panel) identified a homozygous pathogenic variant in the
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