Results 101 to 110 of about 186,376 (313)
Tremor and Other Hyperkinetic Movements, 2018 Background: Arm levitation is an involuntary elevation of the upper limb, a manifestation of the alien-limb phenomenon. It has rarely been reported in Creutzfeldt–Jakob disease (CJD), less so as an initial manifestation Case Report: We report a 56 ...
Vinícius B. Ciarlariello Boaratti +3 more
doaj +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Molecular genetic characterization of ataxic movement disorders in mouse and human [PDF]
, 2009 Deletion at ITPR1 underlies a young onset autosomal recessive ataxia in mice and a late onset autosomal dominant ataxia (SCA15) in humans. Data presented show the utility of investigating spontaneous mouse mutations in understanding human disease ...
van de Leemput, J.C.H. +1 more
core
Downbeat nystagmus and progressive ataxia in adults: consider Chiari malformation type 1
Arquivos de Neuro-Psiquiatria, 2023 Breno Kazuo Massuyama +4 more
doaj +1 more source
More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes
Tremor and Other Hyperkinetic Movements, 2016 Background: The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia.
Toni S. Pearson
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Just recently, successful chimeric antigen receptor (CAR) T cell therapy was reported in the first patient with refractory, anti‐diacylglycerol lipase alpha (DAGLA) antibody‐mediated autoimmune encephalitis, achieving partial clinical remission.
Dimitrios Mougiakakos +9 more
wiley +1 more source
Sensorimotor processing for balance in spinocerebellar ataxia type 6.
, 2015 We investigated whether balance impairments caused by cerebellar disease are associated with specific sensorimotor processing deficits that generalize across all sensory modalities.
Voyce, DC +4 more
core
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3 [PDF]
, 2008 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (SCA3, MJD1) protein.
X. Chen +15 more
core +1 more source
Emerging antioxidant therapies in Friedreich’s ataxia
Frontiers in PharmacologyFriedreich’s ataxia (FRDA) is a rare childhood neurologic disorder, affecting 1 in 50,000 Caucasians. The disease is caused by the abnormal expansion of the GAA repeat sequence in intron 1 of the FXN gene, leading to the reduced expression of the ...
Fred Jonathan Edzeamey +4 more
doaj +1 more source