Chorea acanthocytosis

Classification according to ICD-10
E78.6	Other disorders of lipoprotein metabolism
ICD-10 online (WHO version 2019)

The Huntington's acanthocytosis is a very rare congenital disease with the main features acanthocytosis with neurological abnormalities and normal lipoproteins in the blood serum . It belongs to the neuroacanthocytoses .

Synonyms are: ChAc; Choreoacanthocytosis; Levine-Critchley Syndrome

The name was proposed in 1985 by Tetsuo Sakai and colleagues and refers to the author of the discovery of the disease in 1960 by the US doctor Irvine M. Levine and his first description from 1964 and 1968, as well as to the British neurologist MacDonald Critchley.

distribution

The frequency is not known, there are probably around 500–1000 affected people worldwide, most of them in Japan . The inheritance is autosomal - recessive or autosomal dominant .

root cause

Of the disease are different mutations in VPS13A - gene on chromosome 9 locus q21.2 basis which for Chorein coded.

Clinical manifestations

Clinical criteria are:

Manifestation in adulthood, about one third seizures as the first sign
Acanthocytosis
neurological abnormalities usually in adulthood, such as Tourette's syndrome , Huntington's disease , dyskinesia in the mouth and facial area, often tongue lip bites, grimacing , dysarthria
Hyperkinesis of the limbs
sometimes Parkinson-like
often distal muscular atrophy with weakened reflexes (MER)
fluctuating gait pattern
also sensitivity disorders
Creatine kinase in serum mostly increased
rarely bladder dysfunction
Cerebrospinal fluid and serum lipoproteins normal

Nerve conduction velocity normal

diagnosis

Diagnosing it can be difficult. Important notes are self-harming behavior . Acanthocytosis does not always have to be detectable; Western blot analysis shows the absence of chorein in the erythrocytes .

The magnetic resonance imaging results in atrophy of the striatum , particularly the head of the caudate nucleus with reduced glucose metabolism .

Differential diagnosis

The following are to be distinguished:

therapy

So far, only symptom-related treatment is possible. Deep brain stimulation seems to improve.

course

The prospects are unfavorable because of the progressive course. Seizures or a vegetative malfunction can lead to sudden death.

literature

B. Bader, C. Dobson-Stone, A. Velayos-Baeza, A. Monaco, R. Walker, A. Danek: Chorea acanthocytosis: genetics and course of 106 patients. In: Current Neurology. 35, 2008, doi: 10.1055 / s-0028-1086535 .
LP Hiersemenzel, S. Johannes, P. Themann, B. Hofferberth: Die Choreoakanthozytose. A neurological-haematological syndrome. In: The neurologist. Volume 67, Number 6, June 1996, pp. 490-495, PMID 8767204 (review).

Individual evidence

↑ ^a ^b ^c ^d Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ ^a ^b ^c ^d ^e ^f ^g choreoacanthocytosis. In: Orphanet (Rare Disease Database).
↑ T. Sakai, H. Iwashita, M. Kakugawa: Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome) In: Neurology. Volume 35, number 11, November 1985, p. 1679, doi: 10.1212 / wnl.35.11.1679 , PMID 4058764 .
^ IM Levine: A Hereditary Neurological Disease with Acanthocytosis. In: Neurology . Cleveland, 1964, vol. 16, p. 272.
↑ IM Levine, JW Estes, JM Looney: Hereditary neurological disease with acanthocytosis. A new syndrome. In: Archives of neurology. Volume 19, Number 4, October 1968, pp. 403-409, doi: 10.1001 / archneur.1968.00480040069007 , PMID 5677189 .
^ EM Critchley, DB Clark, A. Wikler: An adult form of acanthocytosis. In: Transactions of the American Neurological Association. Volume 92, 1967, pp. 132-137, PMID 4255726 .
↑ Choreoacanthocytosis. In: Online Mendelian Inheritance in Man . (English)
↑ A. Verkkoniemi-Ahola, L. Kuuluvainen, S. Kivirikko, L. Myllykangas, M. Pöyhönen: Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene. In: Journal of the neurological sciences. [Electronic publication before printing] October 2019, doi: 10.1016 / j.jns.2019.116555 , PMID 31759222 .
↑ F. Suzuki, N. Sato, M. Ota, A. Sugiyama, Y. Shigemoto, E. Morimoto, Y. Kimura, N. Wakasugi, Y. Takahashi, A. Futamura, M. Kawamura, K. Ono, M Nakamura, A. Sano, M. Watanabe, H. Matsuda, O. Abe: Discriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis. In: Journal of the neurological sciences. [Electronic publication before printing] October 2019, doi: 10.1016 / j.jns.2019.116545 , PMID 31704285 .
^ A. Richard, J. Hsu, P. Baum, R. Alterman, DK Simon: Efficacy of Deep Brain Stimulation in a Patient with Genetically Confirmed Chorea-Acanthocytosis. In: Case reports in neurology. Volume 11, number 2, 2019 May-Aug, pp. 199–204, doi: 10.1159 / 000500951 , PMID 31543803 , PMC 6738267 (free full text).

Web links

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[Orpha-2] ↑ ^a ^b ^c ^d ^e ^f ^g choreoacanthocytosis. In: Orphanet (Rare Disease Database).

[3] T. Sakai, H. Iwashita, M. Kakugawa: Neuroacanthocytosis syndrome and choreoacanthocytosis (Levine-Critchley syndrome) In: Neurology. Volume 35, number 11, November 1985, p. 1679, doi: 10.1212 / wnl.35.11.1679 , PMID 4058764 .

[4] IM Levine: A Hereditary Neurological Disease with Acanthocytosis. In: Neurology . Cleveland, 1964, vol. 16, p. 272.

[5] IM Levine, JW Estes, JM Looney: Hereditary neurological disease with acanthocytosis. A new syndrome. In: Archives of neurology. Volume 19, Number 4, October 1968, pp. 403-409, doi: 10.1001 / archneur.1968.00480040069007 , PMID 5677189 .

[6] EM Critchley, DB Clark, A. Wikler: An adult form of acanthocytosis. In: Transactions of the American Neurological Association. Volume 92, 1967, pp. 132-137, PMID 4255726 .

[7] Choreoacanthocytosis. In: Online Mendelian Inheritance in Man . (English)

[8] A. Verkkoniemi-Ahola, L. Kuuluvainen, S. Kivirikko, L. Myllykangas, M. Pöyhönen: Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A gene. In: Journal of the neurological sciences. [Electronic publication before printing] October 2019, doi: 10.1016 / j.jns.2019.116555 , PMID 31759222 .

[9] F. Suzuki, N. Sato, M. Ota, A. Sugiyama, Y. Shigemoto, E. Morimoto, Y. Kimura, N. Wakasugi, Y. Takahashi, A. Futamura, M. Kawamura, K. Ono, M Nakamura, A. Sano, M. Watanabe, H. Matsuda, O. Abe: Discriminating chorea-acanthocytosis from Huntington's disease with single-case voxel-based morphometry analysis. In: Journal of the neurological sciences. [Electronic publication before printing] October 2019, doi: 10.1016 / j.jns.2019.116545 , PMID 31704285 .

[10] A. Richard, J. Hsu, P. Baum, R. Alterman, DK Simon: Efficacy of Deep Brain Stimulation in a Patient with Genetically Confirmed Chorea-Acanthocytosis. In: Case reports in neurology. Volume 11, number 2, 2019 May-Aug, pp. 199–204, doi: 10.1159 / 000500951 , PMID 31543803 , PMC 6738267 (free full text).