Spinocerebellar Ataxia Type 4: a Novel Polyglycine Disease caused by GGC Repeat Expansion in ZFHX3.
Objective: Identification of the mutation causing SCA4. Background: SCA4 is an autosomal dominant disease, originally described in a large Utah pedigree, characterized by sensory and…Assessment of Cerebellar Ataxia Severity in Patients with Posterior Cranial Fossa Tumors Using CASAS Scale
Objective: To develop a scale for assessing the severity of cerebellar ataxia in patients with PCFT Background: Cerebellar ataxia (CA) is prevalent in patients with…Atypical spinocerebellar ataxia (SCA) type 16 as initial presenting migraine and mild ataxia with cerebellar atrophy
Objective: Our aim is to report an atypical case of initial manifestation of spinocerebellar ataxia type 16, which showed migraine and mild ataxia with cerebellar…Seminoma resulting in rapidly progressive cerebellar syndrome with associated dual positive kelch-like protein 11 (KLHL11) IgG and leucine zipper 4 (LUZP4)–immunoglobulin G (IgG) antibodies.
Objective: We describe a case of retroperitoneal seminoma resulting in paraneoplastic progressive cerebellar syndrome secondary to KLHL11 and LUZP4 antibodies. Background: Testicular cancer covers a…Cervical dystonia after cerebellar stroke and medullary hemorrhage
Objective: to present a patient who developed delayed secondary cervical dystonia after anterior medullary hemorrhage and ipsilateral cerebellar stroke. Background: Postroke dystonia is mostly associated…Cerebellar ataxia as primary manifestation of HIV: a rare etiological association
Objective: We hereby report a case of subacute onset progressive pancerebellar ataxia, which after a thorough workup, turned out to be a primary manifestation of…Effectiveness of at home, repeated transcranial pulse current stimulation (tPCS) sessions for treatment of neurodegenerative ataxia.
Objective: To investigate whether a 2-week treatment with anodal cerebellar and cathodal spinal transcranial pulse current stimulation (tPCS) can improve symptoms in neurodegenerative ataxia at…Preliminary report of cerebellar transcranial focused ultrasound for primary orthostatic tremor
Objective: To investigate the effectiveness of MRI-guided cerebellar transcranial ultrasound stimulation (TUS) for the treatment of primary orthostatic tremor (POT). Background: POT is a rare…Machine learning selects common fMRI features of cognitive impairment in Parkinson’s disease from cross-institution datasets
Objective: To obtain common features of Parkinson's disease (PD) with cognitive impairment (CI) in resting-state functional MRI (rs-fMRI) from cross-institution datasets by adopting machine learning.…Abnormal sense of agency is involved in myoclonus dystonia phenotype through a cerebellar impairment
Objective: To investigate the sense of agency in patients with myoclonus-dystonia (DYT-SGCE) compared to healthy volunteers (HV). Background: Sense of agency is an action-related cognitive…
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