Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia

New cases of Troyer-like syndrome

E. Bertini, M. Sabatelli, M. Di Capua, M. R. Cilio, T. Mignogna, A. Federico, P. Tonali

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

We studied two Libyan siblings, born to healthy consanguineous parents, who had suffered from a progressive neurological disorder, characterized by facial dysmorphia, ataxia, spastic paraplegia and an axonal sensory-motor polyneuropathy, since the age of 3 years. The clinical picture progressed slowly over a 6-year period to involve also bulbar and distal limb muscles. Interestingly, we found unusual tubulofilamentous inclusions in peripheral nerves and presynaptic buttons at the neuromuscular junctions. Describing the clinical picture of this presumably new disorder, we comment on the difference from similar conditions.

Original languageEnglish
Pages (from-to)245-254
Number of pages10
JournalEuropean Journal of Paediatric Neurology
Volume2
Issue number5
Publication statusPublished - 1998

Fingerprint

Polyneuropathies
Neuromuscular Junction
Paraplegia
Ataxia
Nervous System Diseases
Peripheral Nerves
Extremities
Muscles
Autosomal recessive Spastic paraplegia 20

Keywords

  • Axonal sensory-motor polyneuropathy
  • Bulbar amyotrophy
  • Facial dysmorphia
  • Familial spastic paraplegia
  • Troyer-like syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

Cite this

Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia : New cases of Troyer-like syndrome. / Bertini, E.; Sabatelli, M.; Di Capua, M.; Cilio, M. R.; Mignogna, T.; Federico, A.; Tonali, P.

In: European Journal of Paediatric Neurology, Vol. 2, No. 5, 1998, p. 245-254.

Research output: Contribution to journalArticle

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