Movement disorders are the common signs as the first neurological deficit in cases with spinocerebellar ataxia type 2 (SCA2)
Objective: We studied neurological signs in cases with SCA2 for early diagnosis. Background: SCA2 is a classification of hereditary ataxia, however, patients with SCA2 have…Sporadic cerebellar ataxia associated with hypogonadotropic hypogonadism and PNPLA6 gene mutation. Case report in a Brazilian patient
Objective: The aim of this study is to describe a case report of a Brazilian patient with sporadic cerebellar ataxia, associated with hypogonadotropic hypogonadism, and…Depression and clinical progression in spinocerebellar ataxias
Objective: To study the prevalence and influence of depressive symptoms in spinocerebellar ataxias (SCAs). Background: Depression is a common comorbidity in SCAs but its association…Peripheral insulin sensitivity and body composition alterations in early stage Machado Joseph disease
Objective: To describe body composition and peripheral sensitivity to insulin (PSI) in early stage and presymptomatic spinocerebellar ataxia type 3/Machado Joseph disease (SCA3/MJD) individuals and…Magnetic resonance imaging in spinocerebellar ataxias: A systematic review
Objective: To perform a systematic review about quantitative central nervous system (CNS) magnetic resonance imaging (MRI) techniques findings in patients with Polyglutamine expansion (PolyQ) spinocerebellar…Fiberoptic endoscopic evaluation of swallowing findings in patients with Machado-Joseph disease
Objective: To describe the main findings of Fiberoptic endoscopic evaluation of swallowing (FEES) in patients with MJD. Background: Machado-Joseph disease (MJD) is a degenerative process…Acute cerebellar degeneration as the first manifestation of Sjögren syndrome: A case report
Objective: To report a case of acute ataxia with cerebellar atrophy as the presenting feature of Sjögren's syndrome (SS). Background: Cerebellar ataxia is rare in…Cerebellar ataxia and pregnancy
Objective: IVIG is a good treatment for autoimmune cerebellar ataxia (high anti-GAD antibody). Background: IVIG should be considered as a therapy for cerebellar ataxia related…Psychogenic movement disorder in cerebellar atrophy
Objective: Description of a patient with psychogenic movement disorder showing cerebellar atrophy in neuroimaging. Background: Psychogenic movement disorders are typically characterized by abnormal involuntary movements…Screening for SLC25A46 mutations in familial and sporadic ataxic patients
Objective: To identify possible mutations of the SLC25A46 gene in patients with various forms of ataxia. Background: Members of the solute carrier family 25 (SLC25)…
