Levodopa-responsive hereditary spastic paraplegia, SPG35, due to FA2H mutations in siblings
Objective: To describe FA2H mutations, one novel, in siblings with SPG35 with symptoms responsive to levodopa. Background: Hereditary spastic paraplegia (HSP) is a phenotypically and…A homozygous loss-of-function mutation in DNAJA3 causes hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V)
Objective: To identify a genetic cause for hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V). Background: Hereditary spastic paraplegia (HSP) constitutes a…Novel variants in the SACS gene in a first Central-Eastern European family with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
Objective: To present genetics, clinical description and natural history of the disease in four members of a Polish family with novel variants in the SACS…Hereditary spastic paraplegia caused by heterozygous AFG3L2 and SPG7 mutations
Objective: To report a new late-onset autosomal recessive spastic paraplegia caused by heterozygous mutations in the AFG3L2 and SPG7 genes. Background: The hereditary spastic paraplegias…Frontal lobe white matter atrophy correlates with disability in spastic paraplegia type 11 (SPG11)
Objective: To evaluate in vivo signs of gray matter (GM) and white matter (WM) abnormalities, through an unbiased neuroimaging method, in a large cohort of…
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