Small-fiber involvement in spinobulbar muscular atrophy (Kennedy's disease)

Fiore Manganelli, Valeria Iodice, Vincenzo Provitera, Chiara Pisciotta, Maria Nolano, Anna Perretti, Lucio Santoro

Research output: Contribution to journalArticle

Abstract

We assessed the involvement of cutaneous innervation in two subjects with a molecularly confirmed diagnosis of spinobulbar muscular atrophy (SBMA) using antidromic nerve conduction studies, quantitative sensory testing, and sweat tests, as well as immunohistochemical techniques and confocal microscopy of glabrous and hairy skin biopsy. Both patients showed a marked reduction in amplitude of sensory action potentials and moderate or severe abnormalities of tactile thresholds and mechanical pain perception. A severe reduction of sweat drops on the Silastic imprint test and a widespread loss of small myelinated and unmyelinated fibers in hairy skin were also observed. Fiber loss involved either somatic or autonomic fibers and did not show any distal-proximal gradient. These results, together with loss of Meissner corpuscles and their large myelinated afferent fibers in glabrous skin, confirmed the extensive involvement of sensory neurons of large and small size and revealed an autonomic skin denervation in SBMA.

Original languageEnglish
Pages (from-to)816-820
Number of pages5
JournalMuscle and Nerve
Volume36
Issue number6
DOIs
Publication statusPublished - Dec 2007

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Keywords

  • Kennedy's disease
  • Skin biopsy
  • Small fiber

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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