Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

We describe a Brazilian family in which inheritance of a G106R mutation in the SPG6 gene (also know as NIPA1) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia. All patients presen...

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Bibliographic Details
Published in:Movement disorders 2006-02, Vol.21 (2), p.279-281
Main Authors: Munhoz, Renato P., Kawarai, Toshitaka, Teive, Helio A., Raskin, Salmo, Sato, Christine, Liang, Yan, St. George-Hyslop, Peter H., Rogaeva, Ekaterina
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Brazil
Chromosome Aberrations
Chromosome Mapping
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Diseases of striated muscles. Neuromuscular diseases
Female
Follow-Up Studies
Gait Disorders, Neurologic - diagnosis
Gait Disorders, Neurologic - genetics
Genes, Dominant - genetics
hereditary spastic paraplegia
Humans
Male
Medical sciences
Membrane Proteins - genetics
Middle Aged
missense mutation
Molecular Sequence Data
Mutation, Missense - genetics
Neurologic Examination
Neurology
Pedigree
Sequence Analysis, DNA
Spastic Paraplegia, Hereditary - diagnosis
Spastic Paraplegia, Hereditary - genetics
SPG6
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Summary:We describe a Brazilian family in which inheritance of a G106R mutation in the SPG6 gene (also know as NIPA1) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia. All patients presented with gait difficulty in their twenties, progressing to frank spastic paraplegia during the next decade. Our report further supports evidence that mutations in SPG6 cause ADHSP. © 2005 Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.20775