Spectrum of Hereditary Spastic Paraparesis (HSP): A study from India
Objective: To explore the genetic spectrum of hereditary spastic paraparesis in Indian patients. Background: HSP belongs to a heterogenous group of monogenic neurological disorders with…Huntington’s disease patients with intermediate allele in Tunisia
Objective: To explore the clinical and molecular findings of two Tunisian patients with LOHD and carriers of an IA. Background: Huntington's disease (HD) is an autosomal…Childhood-onset writer’s cramp evolving to generalised dystonia –a new mutation in KMT2B gene
Objective: To present a case of childhood-onset dystonia with a new mutation in KMT2B gene. Background: KMT2B-related dystonia (DYT-KMT2B) is an increasingly recognized cause of…Stiff-Person Syndrome: Diagnosis and Experimental Models
Objective: Locked-in syndrome is a syndrome that is characterized by the lack of an adequate response of the patient to external, including verbal, stimuli due…Restless legs syndrome may be associated with freezing of gait, start hesitation and falls in Parkinson’s disease
Objective: We aimed to assess the association between RLS and freezing of gait, start hesitation and falls. Background: Parkinson’s disease (PD) is a neurodegenerative disease…Depression and Activities of Daily Living in Idiopathic Parkinson’s Disease without Dementia.
Objective: Objective: To study the influence of depression on ADLs in patients with PD in stages I and II of Hoenh and Yahr. Background: Background:…A case of idiopathic lower limb dystonia treated with combined use of botulinum toxin type A and phenol nerve block
Objective: Here we report a case of focal LLD successfully treated with combined botulinum neurotoxin type A (BoNTA) and Nerve block (NB). Background: Among focal dystonias,…What do people with parkinsonism consider important and want to achieve?
Objective: To describe pilot data from goal setting interviews in people with Parkinsonism to understand what they consider important and want to achieve. Background: Parkinson’s…Hemibody dystonia secondary to Neurobehçet disease : a case report
Objective: To report the case of a patient who presented with dystonia secondary to an inflammatory lesion of the putamen Background: Behçet’s Disease is a multisystemic…POLR3A-Related Disorders and Response to Deep Brain Stimulation
Objective: To expand on the phenotypic spectrum of POLR3A c.1909+22G>A splice variant and report two patients’ tremor response to deep brain stimulation. Background: Polymerase III…
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