CAPN1 mutations are more common than expected in patients with hereditary spastic paraparesis
Objective: To report 4 families with hereditary spastic paraparesis due to CAPN1 mutations. Background: Some years ago, CAPN1 mutations have been described as a cause…Novel Mutation in the Protein Kinase C Gamma Gene Causing Spinocerebellar Ataxia-14 in a Large Family
Objective: To report a novel mutation not been previously reported in large, multi-ethnic general populations, in the protein kinase C gamma (PRKCG) gene causing spinocerebellar ataxia…Clinical and genetic abnormalities in patients with Friedreich’s ataxia: A genotype-phenotype correlation
Objective: To examine the possibility of molecular finding affecting FRDA phenotype, we studied the clinical features and ascertained the GAA repeat sizes in FRDA patients…Case Report: Pseudoatetosis as Manifestation of the Vitamin B12 Deficit
Objective: Subacute combined degeneration (DSAC) of the spinal cord is a classic manifestation in the nervous system of vitamin B12 deficiency, clinically characterized by sensory…Impulsivity and Compulsivity in Cerebellar Ataxias
Objective: To elucidate the role of human cerebellum in the reward processing system, of which a new cerebellar circuitry was recently identified in mice [1].…Amantadine-induced negative myoclonus in a patient with Parkinson’s disease: A case report
Objective: To report a case of amantadine-induced negative myoclonus in a patient with Parkinson’s disease. Background: Parkinson’s disease is a progressive neurodegenerative disease that involves…Novel GNO1 mutation in monozygotic twins responsive to DBS
Objective: GNAO1 is located on chromosome 16q12.2 and encodes Gα0 subunit of the heterotrimeric guanine-binding protein necessary for neuronal signaling. It is thought that loss-of-function GNAO1…Endophenotyping adult-onset isolated cervical dystonia: Does period of onset of mood disorder matter?
Objective: We aim to characterize clinical and demographic features pertaining to the time of onset of mood disorder in CD patients. Background: Mood disorder frequently…Exploring the pathophysiology of acquired dystonia by the use of high frequency somatosensory stimulation
Objective: To explore the effect of high-frequency repetitive sensory stimulation (HF-RSS) on the excitability of the sensorimotor cortex in acquired dystonia Background: Dystonia is currently…Movement disorders and it association with immunological causes: the key is in the movement
Objective: Observe the clinical and biochemical characteristics and the result of the treatment instituted in movement immune-mediated etiology. Background: Paraneoplastic autoimmune movement disorders are a…
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