Progression of nigro-striatal denervation in cerebellar Multiple System Atrophy: a prospective study
Objective: To study the progression of nigro-striatal denervation and evaluate the capacity for [123I]-FP-CIT-SPECT and parkinsonian signs to differentiate MSA-C from idiopathic late-onset cerebellar ataxia…A case of GAD ataxia and stiff leg syndrome
Objective: Stiff person syndrome and cerebellar ataxia are immunological neurological syndromes associated with the presence of glutamic acid decarboxylase (GAD) antibodies. Background: Patients with GAD…Novel KCND3 mutation associated with paroxysmal motor exacerbations in spinocerebellar ataxia 19
Objective: To investigate a family affected by ataxia and paroxysmal motor exacerbations. Background: Ataxia channelopathies share common traits such as slow progression and variable degree…Movement disorders and it association with immunological causes: the key is in the movement
Objective: Observe the clinical and biochemical characteristics and the result of the treatment instituted in movement immune-mediated etiology. Background: Paraneoplastic autoimmune movement disorders are a…Diagnostic Demography of the Ataxia Unit at UNIFESP: 12 years experience
Objective: To describe the historical demography of diagnosed ataxia cases made in a tertiary neurological outpatient clinic in Sao Paulo, Brazil. Background: The term ataxia…Quantitative evaluation of Multiple System Atorphy by triaxial accelerometers and 9-hole peg test
Objective: We need a concise and responsive biomarker for multiple system atrophy (MSA). Background: In Japan, the majority of patients of MSA are of the…Circadian rhythm alterations in an in vitro cellular model of Spinocerebellar ataxia type 17
Objective: To study in vitro expression of circadian rhythm genes (CLOCK, BMAL) in fibroblasts and neural cells of SCA17 patients. Background: Spinocerebellar Ataxia 17 (SCA17)…Brain MRI-based discrimination between multiple system atrophy type cerebellar from other late onset sporadic cerebellar ataxias: a prospective study with implications for diagnosis criteria
Objective: To evaluate, in patients with sporadic late-onset cerebellar ataxia (SLOCA), the discriminative value of each of the magnetic resonance imaging (MRI) features for the…POLR3A-related spastic ataxia: new mutations and a look into the clinical and MRI phenotype
Objective: To report the clinical, molecular and magnetic resonance imaging features of eight patients with POLR3A-realted spastic ataxia. Background: POLR3-related disorders comprise a number of…Cardiac involvement in AVED
Objective: Case report Background: Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disorder caused by mutations in the gene encoding the α-tocopherol transport…
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