Peripheral neuropathy as a presenting feature of familial early onset Alzheimer's disease: a rare clinical association.

Authors

Chinmayi Chandrakant Seemikeri, Pooja Mailankody, R T Rajeswarie, Bhavana Chanda, Rohan R Mahale, Hansashree Padmanabha

Published in

Acta neurologica Belgica. Jul 10, 2026. Epub Jul 10, 2026.

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.

PMID:
42426493
Bibliographic data and abstract were imported from PubMed on 10 Jul 2026.

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