Google
×
AllImagesShoppingNews Maps Videos Books
Search tools

Feeding dystonia, chorea, psychosis, and self-mutilation in an African patient with neuroacanthocytosis syndrome

The Lancet
Feeding dystonia, chorea, psychosis, and self-mutilation in an African patient with neuroacanthocytosis syndrome
1 month ago

Case report: Neuroacanthocytosis associated with novel variants in the VPS13A gene with concomitant nucleotide expansion for CANVAS and assessment with osmotic gradient ektacytometry

Frontiers
Here we report a patient with a hyperkinetic syndrome associated with variants in VPS13A with a concomitant homozygous nucleotide expansion.
3 months ago

Progress in Neuroacanthocytosis Syndromes and Related Diseases Including other Bulk Lipid Transfer Disorders

Frontiers
VPS13A disease (formerly chorea-acanthocytosis; due to bi-allelic mutations in VPS13A) and XK disease (formerly McLeod syndrome; due to mutations of XK) are...
9 months ago

Acute Medicine & Surgery | JAAM Journal

Wiley Online Library
However, the presence of tongue and lip deformities because of self-harm, involuntary perioral movements, truncal ataxia, a history of epilepsy,...
22 months ago

Abnormal Red Blood Cells Found in 4 Huntington’s Patients: Study |...

Huntington's Disease News
Huntington's can co-exist with acanthocytosis, or red blood cells that are abnormal in shape, according to a report of four cases in China.
24 months ago

A Man With Progressive Chorea and Abnormal Trunk Movements

Cureus
Neuroacanthocytosis (NA) syndromes are a group of rare genetic disorders characterized by the presence of abnormally shaped red blood cells...
5 months ago

Fig. 2-IRM cé ré brale, sé quence T2 FSE, coupes axiales : atrophie du...

ResearchGate
Chorea-acanthocytosis (ChAc) is one of the neuroacanthocytosis syndromes which form a group of disorders characterized by the association of neurological...
70 months ago

(PDF) Disturbed Red Blood Cell Structure and Function: An Exploration of the Role of Red Blood Cells in Neurodegeneration

ResearchGate
PDF | The structure of red blood cells is affected by many inborn and acquired factors, but in most cases this does not seem to affect their...
76 months ago

An acanthocyte among normal red blood cells

DocCheck
Acanthocyte refers to a form of red blood cell that are spiked, or possess various abnormal thorny projections. These cells are coarse and...
174 months ago