Novel SPG3A and SPG4 Mutations in Two Patients With Silver Syndrome
Copyright policy )Novel SPG3A and SPG4 Mutations in Two Patients With Silver Syndrome
Abstract Hereditary spastic paraplegia encompasses a group of disorders that are characterized by progressive lower extremity weakness and spasticity. We describe two patients with Silver phenotype including one with a novel SPG4 (Spastin) mutation and a second with a known SPG 4 mutation (previously unassociated with this phenotype) and a concomitant previously unreported mutation in SPG3A (Atlastin). These cases suggest that Silver syndrome may be associated with a wider variety of genotypes than previously described.
- Massachusetts General Hospital United States
- Harvard University United States
Adenosine Triphosphatases, Adult, Muscle Weakness, Spastin, Genotype, Spastic Paraplegia, Hereditary, DNA Mutational Analysis, Membrane Proteins, Middle Aged, GTP Phosphohydrolases, Diagnosis, Differential, Anterior Horn Cells, GTP-Binding Proteins, Mutation, Disease Progression, Humans, Female, Genetic Predisposition to Disease, Motor Neuron Disease, Muscle, Skeletal
Adenosine Triphosphatases, Adult, Muscle Weakness, Spastin, Genotype, Spastic Paraplegia, Hereditary, DNA Mutational Analysis, Membrane Proteins, Middle Aged, GTP Phosphohydrolases, Diagnosis, Differential, Anterior Horn Cells, GTP-Binding Proteins, Mutation, Disease Progression, Humans, Female, Genetic Predisposition to Disease, Motor Neuron Disease, Muscle, Skeletal
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