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…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…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…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.