Bilateral Globus Pallidus interna Deep Brain Stimulation for the treatment of chorea-acanthocytosis: A case report from South Africa
Objective: We report on the efficacy of bilateral Globus pallidus interna deep brain stimulation as a treatment for Chorea-acanthocytosis (ChAc). Background: ChAc is an autosomal…The Impact of DBS on Chorea- Acanthoctosis: Case Report
Objective: Chorea-acanthocytosis (ChAc) is the most common subtype of neuroacanthocytosis syndrome, characterized by the presence of misshaped spiky red blood cells (acanthocytes) and associated neurological…Normal chorein protein signal on Western blot despite VPS13A mutations in VPS13A disease
Objective: Follow up on patients with strong clinical evidence on VPS13A disease, despite normal chorein band expression in Western blot. Background: VPS13A disease is a…Mcleod syndrome: Systematic review with meta-analysis
Objective: Analyze, review and describe the pathognomonic or characteristic signs and symptoms of Mcleod syndrome. Background: Mcleod syndrome is caused due to a mutation of…Case report: Chorea-acynthocytosis with two compoud heterozygous VPS13A large deletions
Objective: We report a 33 year old male patient without functional protein due to compound heterozygosity for VPS13A deletions and discuss the molecular diagnostic difficulties…Chorea-acanthocytosis: Challenges in early diagnosis and excellent treatment response to Deep Brain Stimulation (DBS) – a case report
Objective: To describe diagnostic challenges and the response to DBS in a patient with genetically confirmed Chorea-acanthocytosis (ChAc). Background: At the age of 20 during…A case report of an Egyptian family with a rare condition of choreoacanthocytosis and amyotrophy
Objective: This reports an Egyptian family with two members with the rare condition of choreoacanthocytosis and amyotrophy. Background: choreoacanthocytosis is an autosomal recessive disorder caused…A Mcleod syndrome family and novel XK gene mutation in China mainland
Objective: To explore the clinical and genetic features of Mcleod syndrome caused by XK gene mutation. Background: A clincal case we observed in 2017. Methods:…Phenomenology and therapeutic strategies in a series of patients with chorea-acanthocytosis
Objective: Description of the epidemiology, phenotype and ancillary test results in a series of patients with chorea-acanthocytosis (ChAc). Analysis of the therapeutic strategies and functional…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.