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Parkinson disease 8, autosomal dominant(PARK8)

MedGen UID:
339628
Concept ID:
C1846862
Disease or Syndrome
Synonyms: LRRK2-Related Parkinson Disease; PARK8; Parkinson disease 8; Parkinson disease 8, susceptibility to
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
892334
Concept ID:
CN000007
Functional Concept
Source: HPO
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): LRRK2 (12q12)
OMIM®: 607060

Definition

LRRK2-related Parkinson disease (PD) is characterized by features consistent with idiopathic PD: initial motor features of slowly progressive asymmetric tremor at rest and/or bradykinesia, cog-wheel muscle rigidity, postural instability, and gait abnormalities that may include festination and freezing. Non-motor symptoms in LRRK2-related PD occur with similar frequency as observed in typical idiopathic PD. Onset is generally after age 50 years. [from GeneReviews]

Additional description

From GHR
Parkinson disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.Often the first symptom of Parkinson disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.Parkinson disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.Generally, Parkinson disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson disease.  https://ghr.nlm.nih.gov/condition/parkinson-disease

Clinical features

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.
Resting tremor
MedGen UID:
66697
Concept ID:
C0234379
Finding
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.
Postural instability
MedGen UID:
334529
Concept ID:
C1843921
Finding
Substantia nigra gliosis
MedGen UID:
337668
Concept ID:
C1846865
Finding
The presence of gliosis in the substantia nigra.
Parkinsonism with favorable response to dopaminergic medication
MedGen UID:
375989
Concept ID:
C1846868
Disease or Syndrome
Hyposmia
MedGen UID:
473584
Concept ID:
C2364082
Finding
A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).
Bradykinesia
MedGen UID:
505077
Concept ID:
CN001869
Finding
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Hyposmia
MedGen UID:
473584
Concept ID:
C2364082
Finding
A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).

Recent clinical studies

Etiology

Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, Marder K, Zhang X
Brain 2015 Sep;138(Pt 9):2648-58. Epub 2015 Jun 27 doi: 10.1093/brain/awv179. PMID: 26117366Free PMC Article
Li Y, Sekine T, Funayama M, Li L, Yoshino H, Nishioka K, Tomiyama H, Hattori N
Neurobiol Aging 2014 Apr;35(4):935.e3-8. Epub 2013 Oct 12 doi: 10.1016/j.neurobiolaging.2013.09.019. PMID: 24126159
Guo JF, Sun QY, Lv ZY, Yu RL, Li K, Zhang YH, Tian JY, Xia K, Yan XX, Tang BS
Parkinsonism Relat Disord 2012 Sep;18(8):983-5. Epub 2012 Jun 4 doi: 10.1016/j.parkreldis.2012.05.002. PMID: 22673036
Kumazawa R, Tomiyama H, Li Y, Imamichi Y, Funayama M, Yoshino H, Yokochi F, Fukusako T, Takehisa Y, Kashihara K, Kondo T, Elibol B, Bostantjopoulou S, Toda T, Takahashi H, Yoshii F, Mizuno Y, Hattori N
Arch Neurol 2008 Jun;65(6):802-8. doi: 10.1001/archneur.65.6.802. PMID: 18541801
Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J, Payami H, Nutt J, Maraganore DM, Czyzewski K, Styczynska M, Wszolek ZK, Farrer MJ, Toft M
Am J Hum Genet 2005 Apr;76(4):672-80. Epub 2005 Feb 22 doi: 10.1086/429256. PMID: 15726496Free PMC Article

Diagnosis

Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, Marder K, Zhang X
Brain 2015 Sep;138(Pt 9):2648-58. Epub 2015 Jun 27 doi: 10.1093/brain/awv179. PMID: 26117366Free PMC Article
Guo JF, Sun QY, Lv ZY, Yu RL, Li K, Zhang YH, Tian JY, Xia K, Yan XX, Tang BS
Parkinsonism Relat Disord 2012 Sep;18(8):983-5. Epub 2012 Jun 4 doi: 10.1016/j.parkreldis.2012.05.002. PMID: 22673036
Kumazawa R, Tomiyama H, Li Y, Imamichi Y, Funayama M, Yoshino H, Yokochi F, Fukusako T, Takehisa Y, Kashihara K, Kondo T, Elibol B, Bostantjopoulou S, Toda T, Takahashi H, Yoshii F, Mizuno Y, Hattori N
Arch Neurol 2008 Jun;65(6):802-8. doi: 10.1001/archneur.65.6.802. PMID: 18541801
Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J, Payami H, Nutt J, Maraganore DM, Czyzewski K, Styczynska M, Wszolek ZK, Farrer MJ, Toft M
Am J Hum Genet 2005 Apr;76(4):672-80. Epub 2005 Feb 22 doi: 10.1086/429256. PMID: 15726496Free PMC Article
Uitti RJ, Calne DB, Dickson DW, Wszolek ZK
Parkinsonism Relat Disord 2004 Dec;10(8):461-3. doi: 10.1016/j.parkreldis.2004.10.001. PMID: 15542004

Therapy

Wolters A, Walter U, Wittstock M, Benecke R
J Parkinsons Dis 2014;4(1):45-55. doi: 10.3233/JPD-130287. PMID: 24398659
Schulte EC, Stahl I, Czamara D, Ellwanger DC, Eck S, Graf E, Mollenhauer B, Zimprich A, Lichtner P, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Peters A, Gieger C, Müller-Myhsok B, Trenkwalder C, Winkelmann J
PLoS One 2013 Nov 11;8(11):e79145. doi: 10.1371/journal.pone.0079145. PMID: 24244438Free PMC Article
Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Tselis A, Swerdlow RH, Miller BB, Borjesson-Hanson A, Uitti RJ, Ross OA, Stoessl AJ, Rademakers R, Josephs KA, Dickson DW, Broderick D, Wszolek ZK
Parkinsonism Relat Disord 2013 Oct;19(10):869-77. Epub 2013 Jun 17 doi: 10.1016/j.parkreldis.2013.05.013. PMID: 23787135Free PMC Article
Trender-Gerhard I, Sweeney MG, Schwingenschuh P, Mir P, Edwards MJ, Gerhard A, Polke JM, Hanna MG, Davis MB, Wood NW, Bhatia KP
J Neurol Neurosurg Psychiatry 2009 Aug;80(8):839-45. Epub 2009 Mar 29 doi: 10.1136/jnnp.2008.155861. PMID: 19332422
Tomiyama H, Li Y, Funayama M, Hasegawa K, Yoshino H, Kubo S, Sato K, Hattori T, Lu CS, Inzelberg R, Djaldetti R, Melamed E, Amouri R, Gouider-Khouja N, Hentati F, Hatano Y, Wang M, Imamichi Y, Mizoguchi K, Miyajima H, Obata F, Toda T, Farrer MJ, Mizuno Y, Hattori N
Mov Disord 2006 Aug;21(8):1102-8. doi: 10.1002/mds.20886. PMID: 16622854

Prognosis

Alcalay RN, Levy OA, Waters CC, Fahn S, Ford B, Kuo SH, Mazzoni P, Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung WK, Wolf P, Oliva P, Keutzer J, Marder K, Zhang X
Brain 2015 Sep;138(Pt 9):2648-58. Epub 2015 Jun 27 doi: 10.1093/brain/awv179. PMID: 26117366Free PMC Article
Korvatska O, Leverenz JB, Jayadev S, McMillan P, Kurtz I, Guo X, Rumbaugh M, Matsushita M, Girirajan S, Dorschner MO, Kiianitsa K, Yu CE, Brkanac Z, Garden GA, Raskind WH, Bird TD
JAMA Neurol 2015 Aug;72(8):920-7. doi: 10.1001/jamaneurol.2015.0979. PMID: 26076170Free PMC Article
Schulte EC, Stahl I, Czamara D, Ellwanger DC, Eck S, Graf E, Mollenhauer B, Zimprich A, Lichtner P, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Peters A, Gieger C, Müller-Myhsok B, Trenkwalder C, Winkelmann J
PLoS One 2013 Nov 11;8(11):e79145. doi: 10.1371/journal.pone.0079145. PMID: 24244438Free PMC Article
Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Tselis A, Swerdlow RH, Miller BB, Borjesson-Hanson A, Uitti RJ, Ross OA, Stoessl AJ, Rademakers R, Josephs KA, Dickson DW, Broderick D, Wszolek ZK
Parkinsonism Relat Disord 2013 Oct;19(10):869-77. Epub 2013 Jun 17 doi: 10.1016/j.parkreldis.2013.05.013. PMID: 23787135Free PMC Article
Gouider-Khouja N, Belal S, Hamida MB, Hentati F
Neurology 2000 Apr 25;54(8):1603-9. PMID: 10762501

Clinical prediction guides

Schulte EC, Stahl I, Czamara D, Ellwanger DC, Eck S, Graf E, Mollenhauer B, Zimprich A, Lichtner P, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Peters A, Gieger C, Müller-Myhsok B, Trenkwalder C, Winkelmann J
PLoS One 2013 Nov 11;8(11):e79145. doi: 10.1371/journal.pone.0079145. PMID: 24244438Free PMC Article
Li H, Teo YY, Tan EK
PLoS One 2013 Sep 5;8(9):e75041. doi: 10.1371/journal.pone.0075041. PMID: 24040382Free PMC Article
De Rosa A, Pappatà S, Pellegrino T, De Leva MF, Maddaluno G, Fiumara G, Carotenuto R, Petretta M, Filla A, De Michele G, Cuocolo A
Eur J Nucl Med Mol Imaging 2013 Dec;40(12):1914-21. Epub 2013 Aug 9 doi: 10.1007/s00259-013-2524-6. PMID: 23929432
Kumazawa R, Tomiyama H, Li Y, Imamichi Y, Funayama M, Yoshino H, Yokochi F, Fukusako T, Takehisa Y, Kashihara K, Kondo T, Elibol B, Bostantjopoulou S, Toda T, Takahashi H, Yoshii F, Mizuno Y, Hattori N
Arch Neurol 2008 Jun;65(6):802-8. doi: 10.1001/archneur.65.6.802. PMID: 18541801
Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J, Payami H, Nutt J, Maraganore DM, Czyzewski K, Styczynska M, Wszolek ZK, Farrer MJ, Toft M
Am J Hum Genet 2005 Apr;76(4):672-80. Epub 2005 Feb 22 doi: 10.1086/429256. PMID: 15726496Free PMC Article

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