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Parkinson disease 6, autosomal recessive early-onset(PARK6)

MedGen UID:
342982
Concept ID:
C1853833
Disease or Syndrome
Synonyms: PARK6; PARKINSON DISEASE 6, EARLY-ONSET; PINK1 Type of Young-Onset Parkinson Disease; PINK1-Related Parkinson Disease
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: PINK1
Cytogenetic location: 1p36.12
OMIM®: 605909

Definition

The PINK1 type of young-onset Parkinson disease is characterized by variable combinations of rigidity, bradykinesia, and rest tremor, often making it clinically indistinguishable from idiopathic Parkinson disease. Lower-limb dystonia may be a presenting sign. Onset usually occurs in the third or fourth decade. The disease is slowly progressive. Clinical signs vary; hyperreflexia may be present and abnormal behavior and/or psychiatric manifestations have been described. Dyskinesias as a result of treatment with levodopa frequently occur, as with all individuals with young-onset disease, regardless of the underlying genetic cause. [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.  http://ghr.nlm.nih.gov/condition/parkinson-disease

Clinical features

Urinary urgency
MedGen UID:
39315
Concept ID:
C0085606
Finding
A sudden compelling urge to urinate.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Depression
MedGen UID:
137999
Concept ID:
C0344315
Finding
Postural instability
MedGen UID:
334529
Concept ID:
C1843921
Finding
Anxiety
MedGen UID:
409544
Concept ID:
C1963064
Finding
Resting tremor
MedGen UID:
776592
Concept ID:
C3166481
Finding
Dementia
MedGen UID:
504574
Concept ID:
CN000683
Finding
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.
Parkinsonism
MedGen UID:
504793
Concept ID:
CN001191
Finding
Characteristic neurologic anomaly resulting form 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.
Dystonia
MedGen UID:
504804
Concept ID:
CN001220
Finding
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.
Rigidity
MedGen UID:
505075
Concept ID:
CN001866
Finding
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.
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).

Recent clinical studies

Etiology

Lin CH, Chen ML, Lai TT, Tai CH, Wu RM
Neurobiol Aging 2013 Jun;34(6):1713.e1-4. Epub 2013 Jan 23 doi: 10.1016/j.neurobiolaging.2012.12.023. [Epub ahead of print] PMID: 23352116
Gui YX, Xu ZP, Wen-Lv, Liu HM, Zhao JJ, Hu XY
Parkinsonism Relat Disord 2013 Jan;19(1):21-6. Epub 2012 Nov 20 doi: 10.1016/j.parkreldis.2012.07.016. [Epub ahead of print] PMID: 23182313
Kim SY, Seong MW, Jeon BS, Kim SY, Ko HS, Kim JY, Park SS
Clin Genet 2012 Jul;82(1):77-82. Epub 2011 May 29 doi: 10.1111/j.1399-0004.2011.01693.x. [Epub ahead of print] PMID: 21534944
Brooks J, Ding J, Simon-Sanchez J, Paisan-Ruiz C, Singleton AB, Scholz SW
J Med Genet 2009 Jun;46(6):375-81. Epub 2009 Apr 6 doi: 10.1136/jmg.2008.063917. [Epub ahead of print] PMID: 19351622
Tassin J, Dürr A, de Broucker T, Abbas N, Bonifati V, De Michele G, Bonnet AM, Broussolle E, Pollak P, Vidailhet M, De Mari M, Marconi R, Medjbeur S, Filla A, Meco G, Agid Y, Brice A
Am J Hum Genet 1998 Jul;63(1):88-94. PMID: 9634531Free PMC Article

Diagnosis

Lin CH, Chen ML, Lai TT, Tai CH, Wu RM
Neurobiol Aging 2013 Jun;34(6):1713.e1-4. Epub 2013 Jan 23 doi: 10.1016/j.neurobiolaging.2012.12.023. [Epub ahead of print] PMID: 23352116
Kim SY, Seong MW, Jeon BS, Kim SY, Ko HS, Kim JY, Park SS
Clin Genet 2012 Jul;82(1):77-82. Epub 2011 May 29 doi: 10.1111/j.1399-0004.2011.01693.x. [Epub ahead of print] PMID: 21534944
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
Sutherland G, Mellick G, Sue C, Chan DK, Rowe D, Silburn P, Halliday G
Neurosci Lett 2007 Mar 6;414(2):170-3. Epub 2007 Jan 7 doi: 10.1016/j.neulet.2006.12.051. [Epub ahead of print] PMID: 17280783
Bertoli-Avella AM, Giroud-Benitez JL, Akyol A, Barbosa E, Schaap O, van der Linde HC, Martignoni E, Lopiano L, Lamberti P, Fincati E, Antonini A, Stocchi F, Montagna P, Squitieri F, Marini P, Abbruzzese G, Fabbrini G, Marconi R, Dalla Libera A, Trianni G, Guidi M, De Gaetano A, Boff Maegawa G, De Leo A, Gallai V, de Rosa G, Vanacore N, Meco G, van Duijn CM, Oostra BA, Heutink P, Bonifati V; Italian Parkinson Genetics Network
Mov Disord 2005 Apr;20(4):424-31. doi: 10.1002/mds.20343. PMID: 15584030

Therapy

Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF
Arch Neurol 2006 Jun;63(6):826-32. doi: 10.1001/archneur.63.6.826. PMID: 16769863
Benbunan BR, Korczyn AD, Giladi N
J Neural Transm 2004 Jan;111(1):47-57. Epub 2003 Dec 12 doi: 10.1007/s00702-003-0079-6. [Epub ahead of print] PMID: 14714215
Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, Caputo V, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in Parkinson's Disease
Ann Neurol 2002 Jan;51(1):14-8. PMID: 11782979
Matsumine H, Yamamura Y, Kobayashi T, Nakamura S, Kuzuhara S, Mizuno Y
Neurology 1998 May;50(5):1340-5. PMID: 9595984

Prognosis

Simón-Sánchez J, Kilarski LL, Nalls MA, Martinez M, Schulte C, Holmans P; International Parkinson's Disease Genomics Consortium; Wellcome Trust Case Control Consortium, Gasser T, Hardy J, Singleton AB, Wood NW, Brice A, Heutink P, Williams N, Morris HR
PLoS One 2012;7(3):e28787. Epub 2012 Mar 12 doi: 10.1371/journal.pone.0028787. PMID: 22427796Free PMC Article
Sutherland G, Mellick G, Sue C, Chan DK, Rowe D, Silburn P, Halliday G
Neurosci Lett 2007 Mar 6;414(2):170-3. Epub 2007 Jan 7 doi: 10.1016/j.neulet.2006.12.051. [Epub ahead of print] PMID: 17280783
West AB, Lockhart PJ, O'Farell C, Farrer MJ
J Mol Biol 2003 Feb 7;326(1):11-9. PMID: 12547187
Muñoz E, Pastor P, Martí MJ, Oliva R, Tolosa E
Neurosci Lett 2000 Jul 28;289(1):66-8. PMID: 10899410
Matsumine H, Yamamura Y, Kobayashi T, Nakamura S, Kuzuhara S, Mizuno Y
Neurology 1998 May;50(5):1340-5. PMID: 9595984

Clinical prediction guides

Lin CH, Chen ML, Lai TT, Tai CH, Wu RM
Neurobiol Aging 2013 Jun;34(6):1713.e1-4. Epub 2013 Jan 23 doi: 10.1016/j.neurobiolaging.2012.12.023. [Epub ahead of print] PMID: 23352116
Simón-Sánchez J, Kilarski LL, Nalls MA, Martinez M, Schulte C, Holmans P; International Parkinson's Disease Genomics Consortium; Wellcome Trust Case Control Consortium, Gasser T, Hardy J, Singleton AB, Wood NW, Brice A, Heutink P, Williams N, Morris HR
PLoS One 2012;7(3):e28787. Epub 2012 Mar 12 doi: 10.1371/journal.pone.0028787. PMID: 22427796Free PMC Article
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
van Duijn CM, Dekker MC, Bonifati V, Galjaard RJ, Houwing-Duistermaat JJ, Snijders PJ, Testers L, Breedveld GJ, Horstink M, Sandkuijl LA, van Swieten JC, Oostra BA, Heutink P
Am J Hum Genet 2001 Sep;69(3):629-34. Epub 2001 Jul 2 doi: 10.1086/322996. [Epub ahead of print] PMID: 11462174Free PMC Article
Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M, Albanese A, Wood NW
Am J Hum Genet 2001 Apr;68(4):895-900. Epub 2001 Mar 7 [Epub ahead of print] PMID: 11254447Free PMC Article

Recent systematic reviews

Simón-Sánchez J, Kilarski LL, Nalls MA, Martinez M, Schulte C, Holmans P; International Parkinson's Disease Genomics Consortium; Wellcome Trust Case Control Consortium, Gasser T, Hardy J, Singleton AB, Wood NW, Brice A, Heutink P, Williams N, Morris HR
PLoS One 2012;7(3):e28787. Epub 2012 Mar 12 doi: 10.1371/journal.pone.0028787. PMID: 22427796Free PMC Article

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