title: Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series.
abstract: Previous studies have revealed a wide phenotypic heterogeneity in hereditary motor neuropathy type V in which upper and lower motor neurons and peripheral motor axons are variously affected, even within the same family. In this case series, we describe the genetic, clinical and electrophysiological features of patients belonging to a four-generation Italian family. Because of a possible anticipation phenomenon, the disorder became apparent at an earlier age as it passed to the next generation, with a median age of onset of 65 years for the first 2 generations, 32 for the third, and 13.5 for the fourth. The symptoms at onset varied considerably among the sufferers, with a predominant impairment of the hands in seven cases, the impairment of the four limbs in one patient and only of the lower limbs in another. Also muscle atrophy was variable, from very mild to severe (wasting of the distal muscles of the limbs). Moreover, electrophysiological results were heterogeneous, including cases with isolated and with diffuse axonal motor neuropathy, and one case of motor sensory polyneuropathy. A novel polymorphism G→T was also found in the Berardinelli-Seip congenital lipodystrophy 2 gene on intron 4. This broad phenotypic and genotypic spectrum calls the clinician attention to this rare and still insufficiently known disease.
authors.affiliation: Biochemistry and Molecular Biology Section, Department of Chemistry, University of Catania, Catania, Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Pennisi
authors.forename: Alberto
authors.initials: A
authors.lastname: Raggi
authors.forename: Rita
authors.initials: R
authors.lastname: Barone
authors.forename: Maria
authors.initials: M
authors.lastname: Muglia
authors.forename: Luigi
authors.initials: L
authors.lastname: Citrigno
authors.forename: Mariagiovanna
authors.initials: M
authors.lastname: Cantone
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Lanza
authors.forename: Giovanni
authors.initials: G
authors.lastname: Pennisi
authors.forename: Raffaele
authors.initials: R
authors.lastname: Ferri
authors.forename: Rita
authors.initials: R
authors.lastname: Bella
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D004558:Electric Stimulation; D004576:Electromyography; D005192:Family Health; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D007558:Italy; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction / Q000502:physiology; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits