Expanding the phenotype of spastic paraplegia 26: Report of 4 cases with hearing dysfunction
نویسندگان
چکیده
منابع مشابه
Expanding the ADCY5 phenotype toward spastic paraparesis
The ADCY5 gene encodes 1 of 9 membrane-bound adenyl cyclases converting adenosine triphosphate to cyclic adenosine-39, 59-monophosphate, the second messenger in a range of cellular activities. The ADCY5 protein contains 2 transmembrane domains, M1 and M2, and 2 bipartite cytoplasmic domains, C1 and C2. Pathogenic mutations have been described in domains C1 and C2. Mutations are likely to have a...
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Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders, often characterized by weakness and spasticity in the lower limbs. In our study, we describe a spastic paraplegia type 7 patient with an expanded phenotype who was diagnosed after the discovery of pathogenic variants in SPG7.
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This is a report about two sisters whose red cells were grouped as 0, but their father was grouped as AB and their mother was groupe as O. These two sisters were Bombay phenotype it means they were homozygous for and inactive allele (amorph) H. When H is not formed the enzymes determined by A and B genes have no substrate on which to act, so that hh persons can not make the A or B antigen if th...
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We report the clinical features of 12 families with autosomal dominant spastic paraplegia (ADSP) linked to the SPG4 locus on chromosome 2p, the major locus for this disorder that accounts for approximately 40% of the families. Among 93 gene carriers, 32 (34%) were unaware of symptoms but were clinically affected. Haplotype reconstruction showed that 90% of the asymptomatic gene carriers present...
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Recently an early onset lethal encephalopathy has been described in relation to mutations of NFU1, one of the genes involved in iron-sulfur cluster metabolism. We report a new NFU1 mutated patient presenting with a milder phenotype characterized by a later onset, a slowly progressive spastic paraparesis with relapsing-remitting episodes, mild cognitive impairment and a long survival. The early ...
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ژورنال
عنوان ژورنال: Annals of Musculoskeletal Medicine
سال: 2019
ISSN: 2640-8139
DOI: 10.17352/amm.000018