"NAS are incredibly rare, with an estimated prevalence of 1-5:1000000 3,4."
"ChAc is caused by mutations in the gene encoding chorein, vacuolar protein sorting 13 homolog A (VPS13A) 5. The function of chorein is unclear, but has been shown to be of importance in exocytosis and cytoskeleton structure 6,7."
"The McLeod blood group disorder arises from X-linked mutations in the XK gene at the Xp21.1 locus. The XK locus controls the expression of the ubiquitously expressed XK protein, which is predominantly found in nervous tissue, the myocardium and the erythrocytes cell surface 8. XK forms a disulphide bond with erythrocyte surface Kell antigens, forming a complex. XK and Kell expression is thereby correlated, and so reduced XK causes a reciprocal reduction in Kell. Most carriers of the McLeod blood group will develop the central nervous system features of MLS in later life. Of note, due to myocardial XK protein expression, cardiomyopathy often occurs in MLS. Upon laboratory testing, diminished Kell antigen expression should be seen on the red cell surface of MLS patients 9."
"Trinucleotide repeat expansions of junctophilin 3 (JPH3) are found in HDL2, which are thought to cause the formation of intracellular aggregates and subsequent cell death 4,10."
"PKAN results from mutations in the pantothenate kinase 2 gene (PANK2) at the 20p13 locus. PANK2 encodes an enzyme, pantothenate kinase 2, which indirectly regulates mitochondria energy production via coenzyme A synthesis 4,11."
"Acanthos is the Greek word for "thorn", from which the name of the red blood cell abnormality in NAS, acanthocytosis, is derived. The first case reports of adult acanthocytosis associated with neurological dysfunction, by MacDonald Critchley and Irvine Levine, date to the late 1960s 1-3. Interestingly, NAS was originally known as Levine-Critchley syndrome, however, modern techniques could not confirm the originally identified families had NAS, as they were lost to follow-up, thus the eponymous term has been abandoned 4."
"McLeod syndrome"
"Radiographic Features"
"T2/FLAIR:"
Expected headings
"Unique features of chorea-acanthocytosis"
"Chorea-acanthocytosis"
"McLeod syndrome"
"Huntington disease-like 2"
"Pantothenate kinase-associated neurodegeneration"
"Summary"
"Radiographic Features"
"MRI"
"There are four core NAS:"
"There are no curative therapies for NAS, with clinical management focusing on symptom control and quality of life 12."
"The genes identified in each subgroup and not clearly linked to a common pathway. However, there is a theme of membrane processing failure 12. It is worth noting that acanthocytes are present in a proportion of individuals affected by neurological dysfunction in other contexts. Specifically, inherited disorders of lipoprotein metabolism and systemic diseases, such as severe malnutrition, cancer and liver cirrhosis 4. These are distinct from the core NAS."
"History and etymology"