title: Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: new cases of Troyer-like syndrome.
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.
authors.affiliation: Department of Paediatric Neurology, Bambino Gesu Hospital, Rome, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: M
authors.initials: M
authors.lastname: Sabatelli
authors.forename: M
authors.initials: M
authors.lastname: Di Capua
authors.forename: M R
authors.initials: MR
authors.lastname: Cilio
authors.forename: T
authors.initials: T
authors.lastname: Mignogna
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: P
authors.initials: P
authors.lastname: Tonali
mesh_terms: D001284:Atrophy / Q000473:pathology; D001369:Axons / Q000473:pathology*; D001706:Biopsy; D002531:Cerebellum / Q000473:pathology*; D002648:Child; D003711:Demyelinating Diseases / Q000473:pathology; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010264:Paraplegia / Q000175:diagnosis / Q000235:genetics*; D013116:Spinal Cord / Q000473:pathology*; D013497:Sural Nerve / Q000473:pathology* / Q000503:physiopathology; D013577:Syndrome