U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Chorea-acanthocytosis(CHAC)

MedGen UID:
98277
Concept ID:
C0393576
Disease or Syndrome
Synonyms: Acanthocytosis with neurologic disorder; Choreaacanthocytosis; Choreoacanthocytosis; Levine-Critchley syndrome
SNOMED CT: Choreoacanthocytosis (66881004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): VPS13A (9q21.2)
 
Monarch Initiative: MONDO:0008695
OMIM®: 200150
Orphanet: ORPHA2388

Disease characteristics

Excerpted from the GeneReview: VPS13A Disease
VPS13A disease, caused by VPS13A loss-of-function pathogenic variants, is characterized by a spectrum of movement disorders (chorea, dystonia, tics, sometimes parkinsonism); predominant orofacial choreic and dystonic movements and tics (with involuntary tongue protrusion on attempted swallowing, habitual tongue and lip biting resulting in self-mutilation, involuntary vocalizations); dysarthria and dysphagia; psychiatric, cognitive, and behavioral changes ("frontal lobe type"); seizures; and progressive neuromuscular involvement. Huntingtonism (triad of progressive movement disorder and cognitive and behavioral alterations) is a typical presentation. Phenotypic variability is considerable even within the same family, including for monozygotic twins. Mean age of onset is about 30 years. VPS13A disease runs a chronic progressive course and may lead to major disability within a few years. Some affected individuals are bedridden or wheelchair dependent by the third decade. Age at death ranges from 28 to 61 years; several instances of sudden unexplained death or death during epileptic seizures have been reported. [from GeneReviews]
Authors:
Kevin Peikert  |  Carol Dobson-Stone  |  Luca Rampoldi, et. al.   view full author information

Additional descriptions

From OMIM
Choreoacanthocytosis (CHAC) is an autosomal recessive disorder characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life (Rubio et al., 1997). See also McLeod syndrome (300842) for a phenotypically similar disorder.  http://www.omim.org/entry/200150
From MedlinePlus Genetics
Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of conditions called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.

In addition to chorea, another common feature of chorea-acanthocytosis is involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. These muscle twitches can cause vocal tics (such as grunting), involuntary belching, and limb spasms. Eating can also be impaired as tongue and throat twitches can interfere with chewing and swallowing food. People with chorea-acanthocytosis may uncontrollably bite their tongue, lips, and inside of the mouth. Nearly half of all people with chorea-acanthocytosis have seizures.

Individuals with chorea-acanthocytosis may develop difficulty processing, learning, and remembering information (cognitive impairment). They may have reduced sensation and weakness in their arms and legs (peripheral neuropathy) and muscle weakness (myopathy). Impaired muscle and nerve functioning commonly cause speech difficulties in individuals with this condition, and can lead to an inability to speak.

Behavioral changes are a common feature of chorea-acanthocytosis and may be the first sign of this condition. These behavioral changes may include changes in personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and the inability to take care of oneself.

The signs and symptoms of chorea-acanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with chorea-acanthocytosis.  https://medlineplus.gov/genetics/condition/chorea-acanthocytosis

Clinical features

From HPO
Limb muscle weakness
MedGen UID:
107956
Concept ID:
C0587246
Finding
Reduced strength and weakness of the muscles of the arms and legs.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
Bruxism
MedGen UID:
676
Concept ID:
C0006325
Mental or Behavioral Dysfunction
Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occur while the affected individual is awake.
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Impulse control disorder
MedGen UID:
5769
Concept ID:
C0021122
Mental or Behavioral Dysfunction
Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.
Psychotic disorder
MedGen UID:
19568
Concept ID:
C0033975
Mental or Behavioral Dysfunction
A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Apathy
MedGen UID:
39083
Concept ID:
C0085632
Mental or Behavioral Dysfunction
Apathy is a quantitative reduction of motivation and the initiation and persistence of goal-directed behavior, where the accompanying emotions, thoughts, and social interactions are also suppressed.
Emotional lability
MedGen UID:
39319
Concept ID:
C0085633
Mental or Behavioral Dysfunction
Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
Sensory neuropathy
MedGen UID:
101791
Concept ID:
C0151313
Disease or Syndrome
Peripheral neuropathy affecting the sensory nerves.
Orofacial dyskinesia
MedGen UID:
57747
Concept ID:
C0152115
Disease or Syndrome
Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Personality changes
MedGen UID:
66817
Concept ID:
C0240735
Mental or Behavioral Dysfunction
An abnormal shift in patterns of thinking, acting, or feeling.
Parkinsonian disorder
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Peripheral axonal neuropathy
MedGen UID:
266071
Concept ID:
C1263857
Disease or Syndrome
An abnormality characterized by disruption of the normal functioning of peripheral axons.
Lateral ventricle dilatation
MedGen UID:
383904
Concept ID:
C1856409
Pathologic Function
Caudate atrophy
MedGen UID:
346745
Concept ID:
C1858116
Disease or Syndrome
Progressive choreoathetosis
MedGen UID:
395438
Concept ID:
C1860216
Finding
Self-mutilation of tongue and lips due to involuntary movements
MedGen UID:
348566
Concept ID:
C1860219
Finding
Uncontrolled movements result in tissue damage to the tongue and lips.
Tics
MedGen UID:
853666
Concept ID:
C2169806
Sign or Symptom
Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.
Acanthocytosis
MedGen UID:
195801
Concept ID:
C0687751
Disease or Syndrome
Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Muscular atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Elevated circulating creatine kinase concentration
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Increased circulating lactate dehydrogenase concentration
MedGen UID:
1377250
Concept ID:
C4477095
Finding
An elevated level of the enzyme lactate dehydrogenase in the blood circulation.
Drooling
MedGen UID:
8484
Concept ID:
C0013132
Finding
Habitual flow of saliva out of the mouth.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChorea-acanthocytosis
Follow this link to review classifications for Chorea-acanthocytosis in Orphanet.

Professional guidelines

PubMed

Rabe A, Kihm A, Darras A, Peikert K, Simionato G, Dasanna AK, Glaß H, Geisel J, Quint S, Danek A, Wagner C, Fedosov DA, Hermann A, Kaestner L
Biomolecules 2021 May 12;11(5) doi: 10.3390/biom11050727. PMID: 34066168Free PMC Article
Liu Y, Liu ZY, Wan XH, Guo Y
Chin Med Sci J 2018 Mar 30;33(1):53-59. doi: 10.24920/21802. PMID: 29620515
Velayos-Baeza A, Holinski-Feder E, Neitzel B, Bader B, Critchley EM, Monaco AP, Danek A, Walker RH
Arch Neurol 2011 Oct;68(10):1330-3. doi: 10.1001/archneurol.2011.239. PMID: 21987550Free PMC Article

Recent clinical studies

Etiology

Kaminska J, Soczewka P, Rzepnikowska W, Zoladek T
Int J Mol Sci 2022 May 4;23(9) doi: 10.3390/ijms23095106. PMID: 35563497Free PMC Article
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Walker RH, Jung HH, Danek A
Handb Clin Neurol 2011;100:141-51. doi: 10.1016/B978-0-444-52014-2.00007-0. PMID: 21496574
Walterfang M, Evans A, Looi JC, Jung HH, Danek A, Walker RH, Velakoulis D
Neurosci Biobehav Rev 2011 Apr;35(5):1275-83. Epub 2011 Jan 13 doi: 10.1016/j.neubiorev.2011.01.001. PMID: 21237198
Danek A, Walker RH
Curr Opin Neurol 2005 Aug;18(4):386-92. doi: 10.1097/01.wco.0000173464.01888.e9. PMID: 16003113

Diagnosis

Rashid S, Malek N, Krommyda M
Pract Neurol 2024 May 29;24(3):223-225. doi: 10.1136/pn-2023-003981. PMID: 38290845
Walker RH, Gatto EM, Bustamante ML, Bernal-Pacheco O, Cardoso F, Castilhos RM, Chana-Cuevas P, Cornejo-Olivas M, Estrada-Bellmann I, Jardim LB, López-Castellanos R, López-Contreras R, Maia DP, Mazzetti P, Miranda M, Rodríguez-Violante M, Teive H, Tumas V
Parkinsonism Relat Disord 2018 Aug;53:10-20. Epub 2018 May 21 doi: 10.1016/j.parkreldis.2018.05.021. PMID: 29853295
Liu Y, Liu ZY, Wan XH, Guo Y
Chin Med Sci J 2018 Mar 30;33(1):53-59. doi: 10.24920/21802. PMID: 29620515
Sokolov E, Schneider SA, Bain PG
Pract Neurol 2012 Feb;12(1):40-3. doi: 10.1136/practneurol-2011-000045. PMID: 22258171
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article

Therapy

Rabe A, Kihm A, Darras A, Peikert K, Simionato G, Dasanna AK, Glaß H, Geisel J, Quint S, Danek A, Wagner C, Fedosov DA, Hermann A, Kaestner L
Biomolecules 2021 May 12;11(5) doi: 10.3390/biom11050727. PMID: 34066168Free PMC Article
Liu Y, Liu ZY, Wan XH, Guo Y
Chin Med Sci J 2018 Mar 30;33(1):53-59. doi: 10.24920/21802. PMID: 29620515
Ortega MC, Skármeta NP, Diaz YJ
Cranio 2016 Sep;34(5):332-7. Epub 2016 Apr 11 doi: 10.1179/2151090315Y.0000000027. PMID: 26431448
Miquel M, Spampinato U, Latxague C, Aviles-Olmos I, Bader B, Bertram K, Bhatia K, Burbaud P, Burghaus L, Cho JW, Cuny E, Danek A, Foltynie T, Garcia Ruiz PJ, Giménez-Roldán S, Guehl D, Guridi J, Hariz M, Jarman P, Kefalopoulou ZM, Limousin P, Lipsman N, Lozano AM, Moro E, Ngy D, Rodriguez-Oroz MC, Shang H, Shin H, Walker RH, Yokochi F, Zrinzo L, Tison F
PLoS One 2013;8(11):e79241. Epub 2013 Nov 5 doi: 10.1371/journal.pone.0079241. PMID: 24223913Free PMC Article
Storch A, Kornhass M, Schwarz J
J Neurol 2005 Jan;252(1):84-90. doi: 10.1007/s00415-005-0616-3. PMID: 15654559

Prognosis

Quintas S, Sanles-Falagan R, Berbís MÁ
Mov Disord Clin Pract 2024 Jun;11(6):613-625. Epub 2024 May 1 doi: 10.1002/mdc3.14055. PMID: 38693679Free PMC Article
Suzuki F, Sato N, Sugiyama A, Iijima K, Shigemoto Y, Morimoto E, Kimura Y, Fujii H, Takahashi Y, Nakata Y, Matsuda H, Abe O
J Neuroradiol 2021 Nov;48(6):419-424. Epub 2019 Dec 13 doi: 10.1016/j.neurad.2019.11.006. PMID: 31889551
Walker RH, Miranda M, Jung HH, Danek A
Parkinsonism Relat Disord 2019 Mar;60:158-161. Epub 2018 Sep 14 doi: 10.1016/j.parkreldis.2018.09.003. PMID: 30245172
Lang F, Pelzl L, Schöls L, Hermann A, Föller M, Schäffer TE, Stournaras C
Neurosignals 2017;25(1):117-126. Epub 2017 Nov 28 doi: 10.1159/000485457. PMID: 29179176
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article

Clinical prediction guides

Miltenberger-Miltenyi G, Jones A, Tetlow AM, Conceição VA, Crary JF, Ditzel RM Jr, Farrell K, Nandakumar R, Barton B, Karp BI, Kirby A, Lett DJ, Mente K, Morgello S, Simon DK, Walker RH
Mov Disord 2023 Aug;38(8):1535-1541. Epub 2023 Jun 12 doi: 10.1002/mds.29445. PMID: 37307400
Wu Y, Xu YY, Gao Y, Li JM, Liu XW, Wang MQ, Deng H, Xiao LL, Ren HB, Xiong BT, Pan W, Zhou XW, Wang W
Neurosurg Rev 2022 Jun;45(3):1861-1871. Epub 2022 Jan 12 doi: 10.1007/s10143-022-01735-1. PMID: 35020105
Liu J, Heinsen H, Grinberg LT, Alho E, Amaro E Jr, Pasqualucci CA, Rüb U, den Dunnen W, Arzberger T, Schmitz C, Kiessling M, Bader B, Danek A
Parkinsonism Relat Disord 2018 Apr;49:54-59. Epub 2018 Jan 10 doi: 10.1016/j.parkreldis.2018.01.009. PMID: 29402698
Lang F, Pelzl L, Schöls L, Hermann A, Föller M, Schäffer TE, Stournaras C
Neurosignals 2017;25(1):117-126. Epub 2017 Nov 28 doi: 10.1159/000485457. PMID: 29179176
Müller-Vahl KR, Berding G, Emrich HM, Peschel T
J Neurol 2007 Aug;254(8):1081-8. Epub 2007 Feb 8 doi: 10.1007/s00415-006-0492-5. PMID: 17294064

Recent systematic reviews

Quintas S, Sanles-Falagan R, Berbís MÁ
Mov Disord Clin Pract 2024 Jun;11(6):613-625. Epub 2024 May 1 doi: 10.1002/mdc3.14055. PMID: 38693679Free PMC Article
Wu Y, Xu YY, Gao Y, Li JM, Liu XW, Wang MQ, Deng H, Xiao LL, Ren HB, Xiong BT, Pan W, Zhou XW, Wang W
Neurosurg Rev 2022 Jun;45(3):1861-1871. Epub 2022 Jan 12 doi: 10.1007/s10143-022-01735-1. PMID: 35020105

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...