Expanding the ADCY5 phenotype toward spastic paraparesis
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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INTRODUCTION HTLV-1 infection is endemic in Japan, Caribbean, Africa, and South America. It is transmitted from mother to child, sexual contact, blood transfusions, or sharing needles. Tropical Spastic paraparesis (TSP) is a chronic degenerative neurological disease associated with this infection. It results from a spinal cord symmetrical degeneration at the thoracic level and is characterized ...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2018
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000214