ArticleActa neurologica Belgica2026
Peripheral neuropathy as a presenting feature of familial early onset Alzheimer's disease: a rare clinical association.
Article in Acta neurologica Belgica, 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 describe a patient with genetically confirmed familial early-onset Alzheimer's disease in whom sensory peripheral neuropathy preceded cognitive decline by almost a decade. A 40- year- old man presented with clinical and electrophysiological features of sensory neuropathy, and 9 years later developed memory disturbances. Genetic testing revealed a heterozygous PSEN1 c.349 C > T (p. Pro117Ser) mutation in exon 5. To the best of our knowledge, peripheral neuropathy as an initial manifestation of familial early-onset Alzheimer's disease has never been reported before and could be a possible manifestation of the underlying degenerative process. With this report, we highlight the rarity of this association and underscore the importance of a comprehensive clinical and electrophysiological evaluation in patients with familial early-onset Alzheimer's disease who present with sensory symptoms, gait disturbances, skin or trophic changes, or other clinical features suggestive of peripheral neuropathy.
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