Neuroacanthocytosis (NA) syndromes refer to a series of neurological abnormalities accompanied by the presence of acanthocytes on peripheral blood smears, which are composed of four core disorders, including chorea-acanthocytosis (ChAc), McLeod syndrome, pantothenate kinase-associated neurodegeneration (PKAN), and ...
Sep 18, 2024
Oct 3, 2024 · Background and objectives: The diseases historically known as neuroacanthocytosis (NA) conditions include VPS13A disease (formerly chorea-acanthocytosis) and XK ...
Sep 18, 2024 · Neuroacanthocytosis refers to a group of rare neurodegenerative disorders, the symptoms of which typically resemble Huntington?s disease.
Oct 2, 2024 · Here we report a patient with a hyperkinetic syndrome associated with variants in VPS13A with a concomitant homozygous nucleotide expansion.
Sep 26, 2024 · Background: McLeod syndrome (MLS) and chorea-acanthocytosis (ChAc) are exceedingly rare diseases characterized by a variety of movement disorders including ...
Sep 19, 2024 · This study demonistrated that neuroacanthocytosis disorders has heterozygotes for mutations in the VPS13A gene. Results reveal chorein as a novel powerful ...
5 days ago · Chorea-acanthocytosis (ChAc) is a rare inherited disease of the nervous system. In this disease the neurological manifestations are associated with ...
3 days ago · Neuroacanthocytosis Syndromes is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well ...
Sep 26, 2024 · Background McLeod syndrome (MLS) and chorea-acanthocytosis (ChAc) are exceedingly rare diseases characterized by a variety of movement disorders including ...
5 days ago · McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like ...