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:…Benign hereditary chorea with nocturnal dyskinesias
Objective: To describe a case of NKX2-1 mutation presenting with nocturnal hyperkinetic movements. Background: NKX-2-1 mutation is associated with benign hereditary chorea, respiratory distress in…Two cases of hemichorea-hemiballism in nonketotic hyperglycemia
Objective: We describe two cases of Hemichorea-Hemiballism (HCHB) associated with nonketotic hyperglycemia. Background: HCHB is defined as continuous, non-patterned, and involuntary movement involving one side…Case report of hyperglycemic nonketotic chorea with rapid radiological resolution
Objective: To asses the radiological resolution of hyperglycemic nonketotic chorea Background: Hemichorea is a rare manifestation of nonketotic hyperglycemia that usually affects elderly Asian women…Chorea and Ataxia as Manifestations of Xeroderma Pigmentosum: A Case Report
Objective: To report a case of a 51-year-old woman with recurrent basal cell carcinoma, severe photosensitivity, and progressive chorea and ataxia caused by xeroderma pigmentosum…Generalized dystonia and chorea with family history: Clinical case
Objective: This clinical case intends to highlight the in expansion genotypic base of the genetically undefined benign hereditary chorea, where de adenylate cyclase 5 gene…Pallidotomy for Intractable Hemichorea in Sudden Hyperglicemic Pituitary Adenoma Patient
Objective: To prove that pallidotomy can be an alternative therapy for intractable chorea. Background: A 61 year old woman come with complaint sudden irregular movement…Acute concomitant presentation of chorea and subacute combined degeneration secondary to vitamin B12 deficiency
Objective: To describe an exceptional presentation of vitamin B12 deficiency. Background: Vitamin B12 deficiency typically presents with subacute combined degeneration (SCD). Extrapyramidal symptoms are rare,…Huntington’s Disease in Turkey: A Bird’s Eye Review of the Literature
Objective: This study is aimed to make literature review of international/national publications and conference papers on HD from Turkey, aiming to reflect at least partially…Genome-wide association study identifies common genetic variants associated with cervical dystonia
Objective: We aim to identify genetic variants of cervical dystonia (CD) in a large cohort of patients using a genome-wide association study (GWAS) approach. Background:…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.