Medication Summary
No effective treatment exists. However, symptomatic treatment can be attempted.
In one case describing a patient who presented with truncal tic as part of the symptoms of neuroacanthocytosis, the newly approved anticonvulsant, levetiracetam, was very helpful in controlling the tic. However, further studies are warranted to ensure that it is effective. [47]
Antipsychotic agents
Class Summary
These agents improve psychiatric symptoms and may improve chorea.
Haloperidol (Haldol)
Useful in treatment of irregular spasmodic movements of limbs or facial muscles.
Acetylcholine (ACh) release inhibitor
Class Summary
This agent is effective in mandibular dystonia, thereby improving eating.
OnabotulinumtoxinA (BOTOX©)
Inject into mandibular muscles that are associated with dystonic movements. Treats excessive, abnormal contractions associated with blepharospasm. Binds to receptor sites on motor nerve terminals and inhibits release of ACh, which, in turn, inhibits transmission of impulses in neuromuscular tissue.
Reexamine patients 7-14 d after initial dose to assess response. Increase doses 2-fold over previous dose for patients experiencing incomplete paralysis of target muscle, but do not repeat injection for at least 1 mo.
Tables
OMIM# |
Name |
Mode |
Gene, Locus, and Protein |
Onset age |
Description |
Pathology |
Autosomal recessive |
VPS13A 9q21 chorein [15] |
Adult onset; early to middle age (20-50 y) |
Features include choreoathetosis, dystonia, parkinsonism, orofacial dyskinesias, seizures, and neuropathy. Whether the original index cases (ie, Levine, 1960 and 1968; Critchley, 1967 and 1970) were part of the Levine-Critchley syndrome as understood genetically today remain unknown. [8, 9, 10] |
Atrophy of the caudate, putamen, globus pallidus, and substantia nigra |
||
MacLeod Syndrome or MLS [16] |
X-linked |
Kell blood group gene, XK Xp21 locus XK protein |
Adult onset middle to late age (40-70 y) |
Features include choreoathetosis, dystonia, parkinsonism, seizures, neuropathy, myopathy, and cardiomyopathy. |
Atrophy of the caudate, putamen, and globus pallidus; substantia nigra not involved |
|
Autosomal dominant (CAG repeat expansion) |
JPH3 16q24.3 Junctophilin-3 |
Onset earlier as repeat size increases (usually 30-40 y) |
Features include choreoathetosis, dystonia, parkinsonism, hyperreflexia, dementia, and weight loss. |
Atrophy of the caudate and putamen |
||
PKAN or PANK2 deficiency (previously termed Hallervorden-Spatz disease) [19] |
Autosomal recessive |
PANK2; 20p13 |
Childhood onset (by 4-6 y); adult onset subtypes exist |
Features include choreoathetosis, dystonia, dysarthria, rigidity, spasticity, and dementia. PKAN also includes the HARP (hypoprebeta-lipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) subtype. |
Iron deposition in the globus pallidus (causes "eye-of-the-tiger" sign on MRIs |
|
Autosomal recessive |
MTP; 4q22- q24 |
Infancy / childhood |
Features include ataxia (sensory ataxia with some cerebellar features), visual loss, mental retardation / dementia, low vitamin E level, high cholesterol level, and abnormal lipoprotein electrophoresis. |
Dorsal root ganglia, ascending sensory tracts, cuneate and gracile nuclei of cord, spinocere-bellar projections; possibly some direct cerebellar involvement; retinitis pigmentosa |
||
Autosomal recessive |
APOB; 2p24 |
Infancy / childhood |
Features include ataxia (sensory ataxia with some cerebellar features), visual loss, and mental retardation / dementia. |
Dorsal root ganglia, ascending sensory tracts, cuneate and gracile nuclei of cord, spinocere-bellar projections; possibly some direct cerebellar involvement; retinitis pigmentosa. |
||
Possibly autosomal recessive |
3p22-p21.2 for some, for others linkage not known |
Infancy / childhood |
Features are same as for FHBL1. |
Same as FHBL1 |
OMIM |
Name |
Mode |
Locus |
Description |
Mitochondrial encephalopathy, lactic acidosis, and stroke (MELAS) with acanthocytosis [34] |
Mitochondrial for MELAS but this case is not proven |
Mitochondrial genome for MELAS but this case is not proven |
This is a single case. Typically, MELAS is an A3243G mutation. (Adenine is replaced by guanosine at position 3243 in the mitochondrial genome.) This single case report did not have mitochondrial genomic sequencing. Pathology reports showed abnormalities in Betz cells, brainstem neurons, and anterior horn cells. Muscle pathology results are compatible with MELAS. |
|
N/A |
Familial acanthocytosis with paroxysmal exertion-induced dyskinesias and epilepsy (FAPED) [35] |
Autosomal dominant (not certain; only one family) |
|
This is characterized by intermittent attacks of cramps and involuntary movements; attacks are myoclonic and atonic epilepsy. It has been described in one family. MRI showed mild basal ganglia degeneration. Positron emission tomography scanning showed decreased glucose metabolism in the thalamus. |
Anderson disease, now part of chylomicron retention disease (CMRD) |
Autosomal recessive |
Sar1B gene, 5q31.1 [36] |
Severe intestinal fat malabsorption with diarrhea, steatorrhea, hypobetalipoproteinemia, low cholesterol, triglyceride and phospholipid levels, and failure to secrete chylomicrons after a fatty meal. Typically lacks acanthocytes, retinitis pigmentosa, and ataxia. Rare cases may be associated with acanthocytes and some neurologic problems and so may be considered neuroacanthocytosis. A single mention of features of neuroacanthocytosis is found in book chapter [37] and reference to same chapter [38] . |
|
Atypical Wolman disease [39] |
Unknown (single case) |
Unknown (single case) |
In 1970, Eto and Kitagawa described a patient with lipid malabsorption, vomiting, growth failure, adrenal calcification, hypolipoproteinemia, and acanthocytosis and termed it Wolman disease (OMIM #278000) [39] . The patient had hepatosplenomegaly, steatorrhea, abdominal distention, and adrenal calcification that appeared in the first weeks of life, as well as widespread accumulation of cholesterol esters and triglycerides in the internal organs. Typically, Wolman disease is not associated with acanthocytes or neurologic problems. This single case has now been given its own number (OMIM #278100). Whether this case is truly Wolman disease is uncertain. |
