Ataxia by Mutation in CACNA1A Gene – Case Series
Objective: The present study aim to describes 4 patients of the same family with ataxia and migraine. In 2 of them sequencing analysis was positive…Huntington’s Disease presenting as sporadic cerebellar ataxia
Objective: To describe a unique case of a woman who presented as a progressive cerebellar ataxia, with no family history of neurological diseases, that after…Cardiac involvement in AVED
Objective: Case report Background: Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disorder caused by mutations in the gene encoding the α-tocopherol transport…A Robust and Rapid Method of PCR amplification To Confirm Triplet Repeat Disorders: Single-Step Blood Direct PCR
Objective: To develop a rapid, robust and more reliable method for an expeditious genetic investigation of patients with TRDs.to develop a rapid, robust and more…A life-threatening case of Anti-IgLON5 disease
Objective: To present a case of anti-IgLON5 disease with life-threatening respiratory complications. Background: Anti-IgLON5 disease is a little known CNS disorder characterized by non-REM and…Acute hypertensive crisis with myoclonic movements induced by withdrawal of intrathecal combined clonidine and morphine administration
Objective: Clonidine is a centrally acting alpha(2)-agonist antihypertensive drug used for opioid/alcohol withdrawal and for intrathecal administration in the treatment of chronic neuropathic pain. Cases…Treatment of subcutaneous nodules after subcutaneous infusion of apomorphine
Objective: To evaluate the efficacy of 4 treatment modalities on apomorphine-induced subcutaneous nodules as compared to no treatment. Background: Subcutaneous nodules are the most common adverse events…Effect of gastrointestinal surgery on the pharmacokinetics of levodopa in Parkinson’s disease
Objective: The aim of this study is to evaluate the pharmacokinetics of levodopa in patients with Parkinson’s disease (PD) who underwent gastrointestinal surgery. Background: Levodopa…Neuropsychiatric manifestations in Parkinson’s disease
Objective: Evaluate the different neuropsychiatric manifestations in Parkinson's disease. Background: Parkinson's disease (PD) is the second most common neurodegenerative pathology after Alzheimer's disease, although PD…Prevalence and risk factors for impulsive compulsive behaviors in a cohort of Parkinson’s disease patients
Objective: Objective of the study was to analyze the risk factors for the development of these behaviors. Background: Impulsive compulsive behaviors (ICBs) are a frequent…
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