Variable phenotype of Alzheimer’s disease with spastic paraparesis
نویسندگان
چکیده
منابع مشابه
Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype.
Variant Alzheimer disease (varAD) is clinically characterized by the combination of presenile dementia with spastic paraparesis and is caused by certain mutations of the presenilin 1 (PS-1) gene. We now present the unusual neuropathological phenotype of varAD as seen in 5 affected members of the original Finnish family with a genomic deletion encompassing exon 9 of the PS-1 gene. Their primary ...
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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...
متن کاملAdrenomyeloneuropathy, presenting with sub-acute spastic paraparesis and Addison's disease.
A (AMN) is one of the most frequent phenotypes of X-linked adrenoleukodystrophy (ALD) and its adult variant. Adrenomyeloneuropathy is an X-linked disease, in which there is a deficiency of lignoceryl-CoA ligase, a peroxisomal enzyme, needed for the degradation of very long chain fatty acids (VLCFA).1 The combined incidence of AMN and Addison’s disease, with or without neurological signs, was es...
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Human T-cell lymphotropic virus type I (HTLV-I) is the cause of endemic tropical spastic paraparesis (TSP) or HTLV-I-associated myelopathy (HAM). Because TSP/HAM is not a fatal disease, the neuropathology of this disease, albeit relatively well understood, is based on the examination of just a few incidental cases. We summarise our experience with the neuropathology of tropical spastic parapare...
متن کاملThoracic spondylosis presenting with spastic paraparesis.
Spondylotic change of the spine is common in the cervical and lumbar regions and may present with compression of the spinal cord and nerve roots. Myelopathy due to degenerative disease in the thoracic spine is exceptional. Only a few cases have been reported in the literature and these reports have described disease in the lower four thoracic segments. We report a case of paraparesis caused by ...
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ژورنال
عنوان ژورنال: Journal of Neurochemistry
سال: 2007
ISSN: 0022-3042,1471-4159
DOI: 10.1111/j.1471-4159.2007.05038.x