Alignment of objective markers of speech with listener based judgements and disease severity in Friedreich ataxia
Objective: To identify a subset of acoustic markers of speech that objectively describe listener perceptions, disease severity and speech related quality of life in Friedreich…Study of eye movements as a tool in the diagnosis hereditary ataxias
Objective: To study ocular movements (ocular pursuit, nystagmus and saccades) in the most frequent ataxias (SCA2, SCA3 and Friedreich's ataxia), to find out which variables…Research on the modifier gene of Hereditary spinocerebellar ataxia type 2
Objective: To investigate the influence of CAG trinucleotides repeat of some (CAG)n-containing gene and some gene polymorphisms in AO of SCA2, and analyse the difference…Onset symptoms and time to diagnosis in Friedreich´s Ataxia
Objective: In the present study, we aimed at analyzing onset symptoms in Friedreich Ataxia on the basis of natural history data from the EFACTS registry…Inpatient vs outpatient workup of patients with ataxia and suspected paraneoplastic cerebellar degeneration: Does work-up location matter?
Objective: To assess the outcomes of patients with ataxia evaluated for paraneoplastic syndrome primarily in an outpatient or inpatient setting. Background: Although paraneoplastic ataxias are…Opsoclonus-myoclonus-ataxia syndrome associated to rubella
Objective: Reporting exceptional etiology of OMS and remembering spectrum of neurological manifestations of rubella. Background: Opsoclonus-myoclonus-ataxia (OMS) is a rare child clinical paraneoplastic syndrome. OMS…The First Chinese Case of Fragile X-associated Tremor/ Ataxia Syndrome :an underestimated disease in China
Objective: To report the first case of FXTAS from mainland of China and review the literature to find out why is FXTAS an underestimated disease in…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…The distinct pattern of movement disorders in Caspr2 and LGI1 antibody associated autoimmune encephalitis
Objective: The aim of this study was (1) to investigate the prevalence of movement disorders in a large cohort of patients with encephalitis with LGI1…Fixation suppression the easy way – when nothing else matters
Objective: to validate a simple bedside test to objectify the fixation suppression of the vestibulo-ocular reflex (FS-VOR) in patients with cerebellar syndrome Background: The FS-VOR…
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