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Autosomal recessive early-onset Parkinson disease 23(PARK23)

MedGen UID:
896607
Concept ID:
C4225186
Disease or Syndrome
Synonyms: PARK23; PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
 
Gene (location): VPS13C (15q22.2)
 
Monarch Initiative: MONDO:0014796
OMIM®: 616840

Definition

Parkinson disease-23 is a progressive neurodegenerative disorder characterized by young-adult onset of parkinsonism associated with progressive cognitive impairment leading to dementia and dysautonomia. Some individuals have additional motor abnormalities. Affected individuals become severely disabled within a few decades (summary by Lesage et al., 2016). [from OMIM]

Clinical features

From HPO
Abnormal autonomic nervous system physiology
MedGen UID:
8511
Concept ID:
C0013363
Disease or Syndrome
A functional abnormality of the autonomic nervous system.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Lewy bodies
MedGen UID:
43126
Concept ID:
C0085200
Cell Component
Intracytoplasmic, eosinophilic, round to elongated inclusions found in vacuoles of injured or fragmented neurons. The presence of Lewy bodies is the histological marker of the degenerative changes in LEWY BODY DISEASE and PARKINSON DISEASE but they may be seen in other neurological conditions. They are typically found in the substantia nigra and locus coeruleus but they are also seen in the basal forebrain, hypothalamic nuclei, and neocortex.
Neurofibrillary tangles
MedGen UID:
39273
Concept ID:
C0085400
Finding
Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
Akinesia
MedGen UID:
43218
Concept ID:
C0085623
Finding
Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Abnormal pyramidal sign
MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Resting tremor
MedGen UID:
66697
Concept ID:
C0234379
Sign or Symptom
A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.
Mental deterioration
MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
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.
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.
Limb dystonia
MedGen UID:
152944
Concept ID:
C0751093
Sign or Symptom
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
Cerebral cortical atrophy
MedGen UID:
1646740
Concept ID:
C4551583
Disease or Syndrome
Atrophy of the cortex of the cerebrum.
Rigidity
MedGen UID:
7752
Concept ID:
C0026837
Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.

Professional guidelines

PubMed

Caritativo ECA, Yu JRT, Bautista JMP, Nishioka K, Jamora RDG, Yalung PM, Ng AR, Hattori N
Parkinsonism Relat Disord 2023 Mar;108:105319. Epub 2023 Feb 7 doi: 10.1016/j.parkreldis.2023.105319. PMID: 36774704

Recent clinical studies

Etiology

Caritativo ECA, Yu JRT, Bautista JMP, Nishioka K, Jamora RDG, Yalung PM, Ng AR, Hattori N
Parkinsonism Relat Disord 2023 Mar;108:105319. Epub 2023 Feb 7 doi: 10.1016/j.parkreldis.2023.105319. PMID: 36774704
Zhao Y, Qin L, Pan H, Liu Z, Jiang L, He Y, Zeng Q, Zhou X, Zhou X, Zhou Y, Fang Z, Wang Z, Xiang Y, Yang H, Wang Y, Zhang K, Zhang R, He R, Zhou X, Zhou Z, Yang N, Liang D, Chen J, Zhang X, Zhou Y, Liu H, Deng P, Xu K, Xu K, Zhou C, Zhong J, Xu Q, Sun Q, Li B, Zhao G, Wang T, Chen L, Shang H, Liu W, Chan P, Xue Z, Wang Q, Guo L, Wang X, Xu C, Zhang Z, Chen T, Lei L, Zhang H, Wang C, Tan J, Yan X, Shen L, Jiang H, Zhang Z, Hu Z, Xia K, Yue Z, Li J, Guo J, Tang B
Brain 2020 Jul 1;143(7):2220-2234. doi: 10.1093/brain/awaa167. PMID: 32613234
Tomiyama H, Yoshino H, Ogaki K, Li L, Yamashita C, Li Y, Funayama M, Sasaki R, Kokubo Y, Kuzuhara S, Hattori N
J Hum Genet 2011 May;56(5):401-3. Epub 2011 Mar 3 doi: 10.1038/jhg.2011.22. PMID: 21368765
Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ, Remy P, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group
Neurology 2009 Jan 13;72(2):110-6. Epub 2008 Nov 5 doi: 10.1212/01.wnl.0000327098.86861.d4. PMID: 18987353Free PMC Article
Yamamura Y, Hattori N, Matsumine H, Kuzuhara S, Mizuno Y
Brain Dev 2000 Sep;22 Suppl 1:S87-91. doi: 10.1016/s0387-7604(00)00130-3. PMID: 10984666

Diagnosis

Manti F, Mastrangelo M, Battini R, Carducci C, Spagnoli C, Fusco C, Tolve M, Carducci C, Leuzzi V
Parkinsonism Relat Disord 2022 Oct;103:105-111. Epub 2022 Sep 7 doi: 10.1016/j.parkreldis.2022.08.033. PMID: 36096017
Zhao Y, Qin L, Pan H, Liu Z, Jiang L, He Y, Zeng Q, Zhou X, Zhou X, Zhou Y, Fang Z, Wang Z, Xiang Y, Yang H, Wang Y, Zhang K, Zhang R, He R, Zhou X, Zhou Z, Yang N, Liang D, Chen J, Zhang X, Zhou Y, Liu H, Deng P, Xu K, Xu K, Zhou C, Zhong J, Xu Q, Sun Q, Li B, Zhao G, Wang T, Chen L, Shang H, Liu W, Chan P, Xue Z, Wang Q, Guo L, Wang X, Xu C, Zhang Z, Chen T, Lei L, Zhang H, Wang C, Tan J, Yan X, Shen L, Jiang H, Zhang Z, Hu Z, Xia K, Yue Z, Li J, Guo J, Tang B
Brain 2020 Jul 1;143(7):2220-2234. doi: 10.1093/brain/awaa167. PMID: 32613234
Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB
Lancet Neurol 2015 Feb;14(2):174-82. Epub 2015 Jan 5 doi: 10.1016/S1474-4422(14)70321-7. PMID: 25566998
Fossbakk A, Kleppe R, Knappskog PM, Martinez A, Haavik J
Hum Mutat 2014 Jul;35(7):880-90. Epub 2014 Jun 3 doi: 10.1002/humu.22565. PMID: 24753243Free PMC Article
Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ, Remy P, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group
Neurology 2009 Jan 13;72(2):110-6. Epub 2008 Nov 5 doi: 10.1212/01.wnl.0000327098.86861.d4. PMID: 18987353Free PMC Article

Therapy

Van Rompuy AS, Oliveras-Salvá M, Van der Perren A, Corti O, Van den Haute C, Baekelandt V
Mol Neurodegener 2015 Jun 23;10:23. doi: 10.1186/s13024-015-0017-8. PMID: 26099628Free PMC Article
Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB
Lancet Neurol 2015 Feb;14(2):174-82. Epub 2015 Jan 5 doi: 10.1016/S1474-4422(14)70321-7. PMID: 25566998
Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ, Remy P, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group
Neurology 2009 Jan 13;72(2):110-6. Epub 2008 Nov 5 doi: 10.1212/01.wnl.0000327098.86861.d4. PMID: 18987353Free PMC Article

Prognosis

Manti F, Mastrangelo M, Battini R, Carducci C, Spagnoli C, Fusco C, Tolve M, Carducci C, Leuzzi V
Parkinsonism Relat Disord 2022 Oct;103:105-111. Epub 2022 Sep 7 doi: 10.1016/j.parkreldis.2022.08.033. PMID: 36096017
Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB
Lancet Neurol 2015 Feb;14(2):174-82. Epub 2015 Jan 5 doi: 10.1016/S1474-4422(14)70321-7. PMID: 25566998
Park JS, Koentjoro B, Veivers D, Mackay-Sim A, Sue CM
Hum Mol Genet 2014 Jun 1;23(11):2802-15. Epub 2014 Jan 7 doi: 10.1093/hmg/ddt623. PMID: 24399444Free PMC Article
Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ, Remy P, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group
Neurology 2009 Jan 13;72(2):110-6. Epub 2008 Nov 5 doi: 10.1212/01.wnl.0000327098.86861.d4. PMID: 18987353Free PMC Article
Yamamura Y, Hattori N, Matsumine H, Kuzuhara S, Mizuno Y
Brain Dev 2000 Sep;22 Suppl 1:S87-91. doi: 10.1016/s0387-7604(00)00130-3. PMID: 10984666

Clinical prediction guides

Manti F, Mastrangelo M, Battini R, Carducci C, Spagnoli C, Fusco C, Tolve M, Carducci C, Leuzzi V
Parkinsonism Relat Disord 2022 Oct;103:105-111. Epub 2022 Sep 7 doi: 10.1016/j.parkreldis.2022.08.033. PMID: 36096017
Van Rompuy AS, Oliveras-Salvá M, Van der Perren A, Corti O, Van den Haute C, Baekelandt V
Mol Neurodegener 2015 Jun 23;10:23. doi: 10.1186/s13024-015-0017-8. PMID: 26099628Free PMC Article
Reetz K, Dogan I, Costa AS, Dafotakis M, Fedosov K, Giunti P, Parkinson MH, Sweeney MG, Mariotti C, Panzeri M, Nanetti L, Arpa J, Sanz-Gallego I, Durr A, Charles P, Boesch S, Nachbauer W, Klopstock T, Karin I, Depondt C, vom Hagen JM, Schöls L, Giordano IA, Klockgether T, Bürk K, Pandolfo M, Schulz JB
Lancet Neurol 2015 Feb;14(2):174-82. Epub 2015 Jan 5 doi: 10.1016/S1474-4422(14)70321-7. PMID: 25566998
Park JS, Koentjoro B, Veivers D, Mackay-Sim A, Sue CM
Hum Mol Genet 2014 Jun 1;23(11):2802-15. Epub 2014 Jan 7 doi: 10.1093/hmg/ddt623. PMID: 24399444Free PMC Article
Valente EM, Brancati F, Caputo V, Graham EA, Davis MB, Ferraris A, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in Parkinson's Disease
Neurol Sci 2002 Sep;23 Suppl 2:S117-8. doi: 10.1007/s100720200097. PMID: 12548371

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