Measurement of speech as a biomarker of neurodegenerative disease using acoustic profiles and machine learning
Objective: To examine the utility of speech biometrics for describing and delineating neurodegenerative diseases using acoustic measures and machine learning procedures. Background: Progressive neurological disorders…Characterization of ataxia in Sjogren’s syndrome
Objective: This study aimed to characterize the pattern of ataxia in Sjogren’s syndrome and also to describe cerebellar ataxia and cerebellar atrophy in some of…The Phenotypical Presentation of SCA8 in Taiwan
Objective: We described the clinical features and phenotypic presentation of 40 patients who was diagnosed with spinocerebellar ataxia type 8 (SCA8) in a single tertiary…Spinocerebellar Ataxia Type 3 Presenting with Motor Neuron Disease
Objective: Spinocerebellar ataxia type 3 (SCA3) is associated with a wide spectrum of clinical manifestations, including peripheral neuropathy and amyotrophy, in addition to other motor…Speech biometrics can predict cerebellar dysfunction in multiple sclerosis
Objective: To objectively describe cerebellar mediated speech function using a multiparameter index that reflects pathology and quality of life in MS. Background: Cerebellar function plays…The genetic study of autosomal dominant spinocerebellar ataxia in Kazakhstan
Objective: To perform the genetic study of autosomal dominant spinocerebellar ataxia (ADSCA) cases from Kazakhstan. Background: Spinocerebellar ataxias (SCAs) is a large group of hereditary…SYNGAP1-related intellectual disability with ataxia and late onset of epileptic seizures
Objective: To characterize seizures in a patient with SYNGAP1 mutation and the efficacy of antiepileptic drugs (AEDs). Background: SYNGAP1-related intellectual disability is characterized by developmental…Clinical characterization and disease progression in spinocerebellar ataxia type 35: A case series
Objective: To characterize the clinical presentation and disease progression of patients with spinocerebellar ataxia type 35 (SCA35). Background: Mutations in TGM6 have been identified to…PNPLA6-related Disorder With Expanded Phenotype Including Parkinsonism, Dystonia, And Abnormal Dopamine Transporter Imaging
Objective: To present a case of PNPLA6-related disorder with an expanded phenotype. Background: PNPLA6-related are autosomal recessive disorders with heterogeneous clusters of cerebellar ataxia, upper…Downbeat nystagmus and progressive ataxia mimicking a neurodegenerative disease: a specific phenotype of Chiari malformation
Objective: Case Report. Background: Chiari malformation type 1 (CM1) is a congenital neurological disease with posterior fossa hypoplasia and the cerebellar tonsils being forced through…
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