Clinical and Genetic profile of patients presenting with Adult-onset cerebellar ataxia of probable genetic aetiology
Objective: To study the genetic profile of patients presenting with adult-onset cerebellar ataxia of probable genetic aetiology using whole exome and mitochondrial sequencing (WEMS) Background:…Efficacy and Safety of Deutetrabenazine in Huntington’s Disease: a Systematic Review
Objective: To evaluate efficacy and safety of deutetrabenazine (DTB) in Huntington's Disease (HD) in order to guide evidence-based clinical decisions. Background: HD is a genetic…Vibrotactile Stimulation with Cueing as Promising Therapeutic Approach in Orthostatic Tremor.
Objective: To assess the effect of 9-week vibrotactile stimulation with cueing on static and dynamic balance, anxiety and fatigue in people with Primary Orthostatic Tremor…Clinical and Electrophysiological Features of Hypertrophic Olivary Degeneration
Objective: We performed the electrophysiological analysis of patients with MRI-confirmed hypertrophic olivary degeneration by surface and needle EMG. Background: Hypertrophic olivary degeneration is a multisynaptic…Correlation of 7T MRI Susceptibility and Retinal Nerve Fiber Thickness with Neurological Severity in Wilson’s Disease
Objective: To evaluate susceptibility changes in the lentiform nucleus using 7T MRI and peripapillary retinal nerve fiber layer (p-RNFL) thickness using Optical Coherence Tomography (OCT)…Role of the other babinski sign in hemifacial spasm
Objective: To investigate the role of the “Other Babinski Sign” in differentiating HFS from blepharospasm and to determine its prevalence in HFS patients. Background: The…A Dance with Sydenham, it’s Never Too Late to Tango
Objective: Sydenham’s Chorea (SC) is a predominantly female childhood disorder characterized by irregular, fluid-like, involuntary movements. Here we present a case of isolated Sydenham’s chorea…The identification of two novel intronic variants of the SPG4/SPAST gene with pathogenic effect reveals a novel genotype-phenotype correlation
Objective: To perform clinical and genetic analysis of two large families with autosomal dominant hereditary spastic paraplegia (ADHSP). Background: Hereditary spastic paraplegia (HSP) is a…Shaking, Not Stirred: An Atypical Case of Propriospinal Myoclonus
Objective: To describe a rare presentation of propriospinal myoclonus (PSM) restricted to upper cervical segments and discuss the diagnostic challenge posed by its overlap with…Unusual presentation of POLR3A-associated leukodystrophy – two cases reported
Objective: Presentation of two patients with different clinical manifestations of a POLR3A-related leukodystrophy (NM_007055.4) Background: POLR3A related leukodystrophy is an autosomal recessive disease caused by…
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