A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation

J Neurol. 2015 Feb;262(2):476-8. doi: 10.1007/s00415-014-7606-2. Epub 2014 Dec 16.

Authors

Marina Scarlato¹, Arturo Nuara, Simonetta Gerevini, Sara Benedetti, Paolo Rossi, Maurizio Ferrari, Stefano Carlo Previtali

Affiliation

¹ Department of Neurology, INSPE and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy, [email protected].

PMID: 25511172
DOI: 10.1007/s00415-014-7606-2

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adenosine Triphosphatases / genetics*
DNA Mutational Analysis
Female
Humans
Male
Microfilament Proteins
Middle Aged
Muscular Dystrophy, Facioscapulohumeral / complications*
Muscular Dystrophy, Facioscapulohumeral / genetics*
Nuclear Proteins / genetics*
Pedigree
Phenotype
RNA-Binding Proteins
Spastic Paraplegia, Hereditary / complications*
Spastic Paraplegia, Hereditary / genetics*
Spastin
Young Adult

Substances

FRG1 protein, human
Microfilament Proteins
Nuclear Proteins
RNA-Binding Proteins
Adenosine Triphosphatases
Spastin
SPAST protein, human