Progressive Apraxia of Speech as a Presenting Symptom of Spinocerebellar Ataxia Type 2
Objective: To describe a spinocerebellar ataxia (SCA) presenting with progressive apraxia of speech (AOS), a previously undescribed SCA phenotype. Background: Spinocerebellar ataxia type 2 (SCA2)…Phenomenology of Coenzyme Q10-deficiency Spinocerebellar Ataxia: Case Description Of Two Siblings And New Therapeutic Perspectives
Objective: To describe the phenomenology of SCAR9, caused by a homozygotic mutation in COQ8A gene, and to describe the positive effects of a holistic approach…Genetic Architecture Of Movement Disorder And Its Association With Consanguinity In Pashtoon Population
Objective: Purpose of the study was to improve the understanding on genetic basis of movement disorders and use of this information for protective measurements like…NGS diagnosis rate in a combined cerebellar ataxia and spastic paraplegia series from southern Spain
Objective: To evaluate the diagnosis rate of Next Generation Sequencing (NGS) in a combined series of patients with progressive cerebellar ataxia (CA) and progressive spastic…A Novel Mutation of NKX2-1 Gene: A Rare Presentation of Chorea
Objective: NKX2-1-related disorders encompass a spectrum extending from benign hereditary chorea (BHC) to choreoathetosis, hypothyroidism, neonatal respiratory distress. The prevalence of chorea remains undetermined, albeit…Adult-onset Niemann-Pick C in India: phenotype and genotype
Objective: This study was aimed to describe the clinical, radiological, and molecular profile of adults affected by NPC. Background: Adult-onset Niemann-Pick C (NPC) is a…Spinocerebellar ataxia type 2 specific microRNAs may have an effect on neurodegeneration.
Objective: 1.Identification of microRNA in whole blood PBMCs of SCA2 patients .2.Target prediction and pathway analysis of spinocerebellar ataxia type 2 identified miRNAs. 3.Validation of…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…Challenges of Huntington’s disease and chorea in Guinea: the benefits of genetic testing in tropical environments
Objective: The aim of this study was to identify the genetic underlier of individuals presenting with chorea, allowing for the diagnosis of these patients, and…Dandy-Walker syndrome. A case study.
Objective: Present a case study with rare congenital disease for further сreating a database and developing algorithms for the management of such cases in the…
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