BACKGROUND Panthothenate kinase-associated neurodegeneration (PKAN) belongs to a group of hereditary neurodegenerative disorders known as neuroacanthocytosis (NA). This genetically heterogeneous group of diseases is characterized by degeneration of neurons in the basal ganglia and by the presence of deformed red blood cells with thorny protrusions, acanthocytes, in the circulation. OBJECTIVE ...

The chorea-acanthocytosis syndrome (CHAC) is a rare disorder beginning in late adolescent or adult life in association with acanthocytosis, a normal lipid profile and characterized by progressive neurological disease. The inheritance is usually autosomal recessive, although apparent sporadic and autosomal dominant instances are also known. We report here a young man who presented with choreo-at...

We report a rare genetic disorder case of neuroacanthocytosis with clinical profile (oro-lingual-facial abnormal involuntary movements, neuropathy) and typical magnetic resonance findings (cerebral atrophy, bilateral caudate nuclei atrophy with dilated anterior horns of the lateral ventricles), positive family history in his brother and acanthocytosis in peripheral blood smear.

we report a rare genetic disorder case of neuroacanthocytosis with clinical profile (oro-lingual-facial abnormal involuntary movements, neuropathy) and typical magnetic resonance findings (cerebral atrophy, bilateral caudate nuclei atrophy with dilated anterior horns of the lateral ventricles), positive family history in his brother and acanthocytosis in peripheral blood smear.

Background Huntington's Disease-like 2 (HDL2) is classified as a neuroacanthocytosis; however, this remains unverified. We aim to determine if acanthocytes are present in HDL2 and whether acanthocytes can differentiate HDL2 from Huntington's disease (HD). Methods We prospectively compared 13 HD and 12 HDL2 cases against 21 unaffected controls in Johannesburg. Blood smears were prepared using ...

Neurological abnormalities associated with spiculated, "acanthocytic" red cells in blood have been summarized as neuroacanthocytosis. This is a heterogeneous group of conditions that can now be clearly subdivided on the basis of genetic discoveries. The core neuroacanthocytosis syndromes are autosomal recessive chorea-acanthocytosis (ChAc) and the X-linked McLeod syndrome (MLS). Huntington's di...

Sir: The term neuroacanthocytosis describes a group of phenotypically and genetically heterogeneous disorders associated with choreatic movements, psychiatric abnormalities, and cognitive decline. 1,2 Patients with neuroacanthocytosis may develop dementia, 3 schizophrenia, 4,5 obsessive-compulsive disorder (OCD), 5,6 tourettism, 7 and self-mutilation. 8 We present the case of a patient with neu...