Results 41 to 50 of about 70,828 (231)
Myelitis due to Neurobrucellosis with Normal MR Findings
Neurobrucellosis is an uncommon complication of brucellosis. The clinical features vary greatly and, tend to be chronic. Many laboratory procedures are usually employed in the diagnosis of neurobrucellosis. It is essential to perform serological tests in
Özlem Bizpınar Munis +3 more
doaj +1 more source
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
1 Institute of Clinical Medicine, University of Oslo, Norway 2 Department of Neurology, Oslo University Hospital, Norway 3 Department of Neurology, Vestre Viken Hospital, Norway 4 Department of Medical Genetics, Oslo University Hospital, Norway 5 ...
S. L. Rydning +11 more
semanticscholar +1 more source
Hepatic Myelopathy in a Patient with Decompensated Alcoholic Cirrhosis and Portal Colopathy
Cirrhotic or hepatic myelopathy is a rare neurological complication of chronic liver disease usually seen in adults and presents as a progressive pure motor spastic paraparesis which is usually associated with overt liver failure and a surgical or ...
Madhumita Premkumar +7 more
doaj +1 more source
Brazilian studies on tropical spastic paraparesis: a meta-analysis
Tropical spastic paraparesis (TSP) is a chronic progressive myelopathy and in most of the cases has a retroviral (HTLV-1) etiology, when it is denominated HTLV-1 associated-mielopathy (HAM/TSP).
C.M. de Castro Costa +3 more
doaj +1 more source
Hepatic myelopathy (HM) diagnosis requires the exclusion of other causes of spastic paraparesis and typically presents in the setting of recurrent hepatic encephalopathy.
Matthew Lynberg +3 more
doaj +1 more source
The retrovirus human T lymphotropic virus type 1 (HTLV-1) promotes spastic paraparesis, adult T cell leukaemia and other diseases. Recently, some human microRNAs (miRNAs) have been described as important factors in host-virus interactions.
Larissa Deadame de Figueiredo Nicolete +8 more
doaj +1 more source
HTLV-1 is the causative agent of a severe form of adult T cell leukemia/Lymphoma (ATL), and of a chronic progressive neuromyelopathy designated HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP).
M. Baratella +7 more
semanticscholar +1 more source
Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population
BackgroundAs a rare genetic disease, adrenomyeloneuropathy (AMN) is the most common adult phenotype of X-linked adrenoleukodystrophy (X-ALD). Mutations in the ABCD1 gene have been identified to cause AMN.MethodsWe applied clinical evaluation, laboratory ...
Raoli He +12 more
doaj +1 more source
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source

