neuroacanthocytosis/ataxia

Mutations in each of the four human VPS13 (VPS13A-D) proteins are associated with distinct neurological disorders: chorea-acanthocytosis, Cohen syndrome, early-onset Parkinson's disease and spastic ataxia. Recent evidence suggests that the different VPS13 paralogs transport lipids between organelles

The term acanthocytosis is derived from the Greek for "thorn" and is used to describe a peculiar spiky appearance of erythrocytes. Acanthocytosis is found to be associated with at least three hereditary neurological disorders that are generally referred to as neuroacanthocytosis.

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000

Next-generation sequencing was used to investigate 9 rare Chinese pedigrees with rare autosomal recessive neurologic Mendelian disorders. Five probands with ataxia-telangectasia and 1 proband with chorea-acanthocytosis were analyzed by targeted gene sequencing. Whole-exome sequencing was used to

There is a group of less-common movement disorders in which a clear cognitive phenotype coexists alongside the motor abnormality, and the recognition of this co-occurrence is essential to diagnose these disorders in an early phase. Examples include chorea-acanthocytosis, Niemann-Pick type C, some

The Vps (vacuolar protein sorting) group of proteins was identified in yeast Saccharomyces cerevisiae. Among the Vps proteins, there is the Vps13 family, proteins of which are present in organisms from different systematic groups. In yeast there is only one Vps13 protein, while in humans there are

Huntington's disease (HD), an autosomal-dominant illness caused by an expansion of the CAG repeats on the short arm of chromosome 4, is clinically characterized by a combination of movement disorders, cognitive decline and behavioral changes. HD accounts for 90-99% of patients who present with this

An autopsy case with clinically and molecular genetically diagnosed Huntington's disease (HD) accompanied with minimal non-specific neuropathological features was reported. When the patient was 45 years old, he had faulty memory, mood swing, personality change and agitation. Neurological and

We describe here familial dyskinesia and facial myokymia (FDFM), a novel autosomal dominant disorder characterized by adventitious movements that sometimes appear choreiform and that are associated with perioral and periorbital myokymia. We report a 5-generation family with 18 affected members (10

OBJECTIVE Patients presenting with features of Huntington's disease but lacking the causative genetic expansion can be challenging diagnostically. The differential diagnosis of such Huntington's disease phenocopy syndromes has not recently been reviewed. RESULTS Cohort studies have established the

In a family with two sets of dizygotic twins, three, possibly all four, siblings were affected by the same disorder. The parents were unrelated and the illness seemed limited to one generation. Onset was in the early to mid-20s with tics and choreiform movements, dysarthria, and dysphagia. Two twins