Abstract
Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of clinical heterogeneity in SPG3A mutations.
MeSH terms
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Adult
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Aged
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Amyotrophic Lateral Sclerosis / genetics
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Amyotrophic Lateral Sclerosis / physiopathology
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Atrophy / diagnostic imaging
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Atrophy / genetics
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Atrophy / pathology
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Cerebellar Diseases / genetics
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Cerebellar Diseases / pathology
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Cerebellar Diseases / physiopathology
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Cerebellum / diagnostic imaging
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Cerebellum / pathology
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Cerebellum / physiopathology
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DNA Mutational Analysis
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Disease Progression
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Female
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Frontal Lobe / diagnostic imaging
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Frontal Lobe / pathology
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Frontal Lobe / physiopathology
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GTP Phosphohydrolases / genetics*
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GTP-Binding Proteins
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Genotype
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Humans
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Italy
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Magnetic Resonance Imaging
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Male
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Membrane Proteins
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Molecular Sequence Data
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Mutation / genetics*
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Phenotype
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Positron-Emission Tomography
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Sequence Homology, Amino Acid
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Spastic Paraplegia, Hereditary / genetics*
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Spastic Paraplegia, Hereditary / metabolism
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Spastic Paraplegia, Hereditary / physiopathology*
Substances
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Membrane Proteins
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ATL1 protein, human
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GTP Phosphohydrolases
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GTP-Binding Proteins