title: TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature.
abstract: Scapuloperoneal spinal muscular atrophy (SPSMA) is a rare autosomal dominant disorder caused by heterozygous mutations in the transient receptor potential cation channel (TRPV4) gene, characterized by progressive scapuloperoneal atrophy and weakness. Additional features, such as vocal cord paralysis, scoliosis and/or arthrogryposis, are likely to occur. We report the first Italian family with SPSMA, harboring the c.806G>A mutation in TRPV4 gene (p. R269H). The pattern of expression was variable: the father showed a mild muscular involvement, while the son presented at birth skeletal dysplasia and a progressive course. We reinforce the concept that the disease can be more severe in the following generations. The disorder should be considered in scapuloperoneal syndromes with autosomal dominant inheritance and a neurogenic pattern. The presence of skeletal deformities strongly supports this suspicion. An early diagnosis of SPSMA may be crucial in order to prevent the more severe congenital form.
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Biasini
authors.affiliation: IRCCS Centro Neurolesi "Bonino Pulejo", Messina, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Portaro
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Mazzeo
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Vita
authors.affiliation: Department of Neurological, Biomedical and Movement Sciences, University of Verona, Verona, Italy; Department of Neurosciences, AOUI, Verona, Italy.
authors.forename: G M
authors.initials: GM
authors.lastname: Fabrizi
authors.affiliation: Department of Neurological, Biomedical and Movement Sciences, University of Verona, Verona, Italy; Department of Neurosciences, AOUI, Verona, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Taioli
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Toscano
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy. Electronic address: crodolico@unime.it.
authors.forename: C
authors.initials: C
authors.lastname: Rodolico
mesh_terms: D000368:Aged; D042241:Early Diagnosis; D005190:Family; D006801:Humans; D007558:Italy; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D012863:Skeleton / Q000002:abnormalities; D050916:TRPV Cation Channels / Q000235:genetics*; D055815:Young Adult
chemical_list: D050916:TRPV Cation Channels; C416986:TRPV4 protein, human
keywords: Member 4 (TRPV4); Scapuloperoneal spinal muscular atrophy (SPSMA); Subfamily V; Transient receptor potential cation channel