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[Common forms of hereditary spastic paraplegias].
A group of hereditary spastic paraplegias includes about 80 spastic paraplegia genes (SPG): forms with identified (almost 70) or only mapped (about 10) genes. Methods of next generation sequencingExpand
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Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
Hereditary spastic paraplegia (HSP) comprises a heterogeneous group of neurodegenerative disorders, it share common symptom - of progressive lower spastic paraparesis. The most common autosomalExpand
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[Rigid spine congenital muscular dystrophy produced by SEPN1 mutations (RSMD1)].
RSMD1 is a rare autosomal recessive disorder. Unlike most congenital muscular dystrophies, early motor improvement and normal CPK are typical, while in contrast to structural myopathies there is noExpand
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A new case of infantile‐onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family
SPG61 (OMIM: 615685) is an extremely rare form of complicated hereditary spastic paraplegia [1,2]. To date, only one family with SPG61 has been reported [3]. Here, we describe the second SPG61 caseExpand
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[Hereditary spastic paraplegia type 4 (SPG4) in Russian patients].
AIM To investigate molecular, clinical and genealogical characteristics of SPG4 in a first representative Russian group, to estimate SPG4 proportion among all DNA-diagnosed spastic paraplegias. Expand
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Molecular Genetic Diversity and DNA Diagnostics of Hereditary Spastic Paraplegia
Abstract—Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative disorders predominantly characterized by damage to the pyramidal tract. The major, single symptom of HSP isExpand
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KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
Spastic paraplegia type 30 (SPG30) caused by KIF1A mutations was first reported in 2011 and was initially considered a very rare autosomal recessive (AR) form. In the last years, thanks to theExpand
[Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review].
Spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare autosomal recessive neurodegenerative disease related to SACS gene and characterized by cerebellar, pyramidal and some other signs. TheExpand
A new allelic variant of rigid spine syndrome
Description of clinical features of the disease in a four-year-old boy with rigid spine syndrome is presented. Molecular genetic analysis revealed an unknown homozygous mutation 988delC in SEPN1 geneExpand