Value of DaTSPECT in rare movement disorders: neurodegenerative diseases
Objective: To explore the expanding indications of dopamine transporter imaging (DaT Spect) beyond the established indications. Background: DaTSPECT is a well-established method to rule out…Expanding the Phenotype of a Novel Mutation in ELOVL4 and the Differential Diagnosis of the Hot Cross Bun Sign
Objective: To describe the clinical and radiological characteristics of three independent families affected by SCA 34 due to a recently identified mutation in ELOVL4. Background:…Deep Brain Stimulation of bilateral ventral intermediate nucleus in a patient with spinocerebellar ataxia type 12
Objective: To treat the medication-resistant tremor of SCA12 by Deep brain stimulation (DBS) Background: Action tremor might be the most prominent feature of SCA12 patient…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…iPSC-Based Modeling of SCA12 for Targeted Therapeutic Screening
Objective: 1. To identify a cohort of genetically confirmed SCA12 patients of Indian origin, derive iPSCs, progenitor cells and neurons from peripheral blood samples2. To…Transcranial Direct Current Stimulation and Neurofunctional Physical Therapy Improves Motor and Cognitive Symptoms in a Patient with Type 1 Spinocerebellar Ataxia – A Case Report
Objective: The aim of this research was to develop and verify the effects of a Non-Invasive Neuromodulation protocol associated with Neurofunctional Physiotherapy on motor functions,…Spinocerebellar Ataxia 34: ELOVL4 Recurrent Mutation in a Different Family
Objective: We present a rare case of Spinocerebellar Ataxia 34 (SCA 34) in a Vietnamese patient. Background: SCA 34 is a subtype of Spinocerebellar Ataxia…Non Classified Spinocerebellar Ataxia-like Syndrome due to GYG-1 gene mutation with TPM3, GEMIN5 and DES mutations in a Peruvian family
Objective: To report a GYG1 mutation in a Peruvian family presenting as a non classified Spinocerebellar Ataxia (SCA) with added GEMIN5, DES and TPM3 mutations.…White Matter Tractography in Spinocerebellar Ataxia type 1 and 2 in comparison with Healthy Controls
Objective: To assess and quantify microstructural white matter atrophy in brain of spinocerebellar ataxia (SCA) types SCA1 and SCA2 patients in comparison with healthy subjects.…Tremulous Machado-Joseph Disease
Objective: To describe a case of spinocerebellar ataxia type 3 (SCA3) presenting with tremor. Background: Tremor is not a frequent manifestation in SCA3, especially as…
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