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Parkinson disease 18, autosomal dominant, susceptibility to(PARK18)

MedGen UID:
481901
Concept ID:
C3280271
Finding
Synonym: Parkinson disease 18
 
Gene (location): EIF4G1 (3q27.1)
 
Monarch Initiative: MONDO:0013653
OMIM®: 614251

Definition

Parkinson disease-18 (PARK18) is an autosomal dominant, adult-onset form of the disorder. It is phenotypically similar to idiopathic Parkinson disease (summary by Chartier-Harlin et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. [from OMIM]

Additional description

From MedlinePlus Genetics
Generally, Parkinson's 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's disease.

Parkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.

Often the first symptom of Parkinson's 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's 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's 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.  https://medlineplus.gov/genetics/condition/parkinsons-disease

Clinical features

From HPO
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.
Bradykinesia
MedGen UID:
115925
Concept ID:
C0233565
Sign or Symptom
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).
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.
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.
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

Hattori N
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S1-3. doi: 10.1016/S1353-8020(11)70003-7. PMID: 22166400

Recent clinical studies

Etiology

Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Periñan MT, Amouri R, Ben Sassi S, Hentati F; Global Parkinson's Genetics Program (GP2), Tonelli F, Alessi DR, Farrer MJ
Lancet Neurol 2024 Jun;23(6):603-614. Epub 2024 Apr 10 doi: 10.1016/S1474-4422(24)00121-2. PMID: 38614108Free PMC Article
Valente EM, Arena G, Torosantucci L, Gelmetti V
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S71-3. doi: 10.1016/S1353-8020(11)70023-2. PMID: 22166460
Sundal C, Fujioka S, Uitti RJ, Wszolek ZK
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S7-10. doi: 10.1016/S1353-8020(11)70005-0. PMID: 22166459
Lesage S, Brice A
Hum Mol Genet 2009 Apr 15;18(R1):R48-59. doi: 10.1093/hmg/ddp012. PMID: 19297401
Gasser T, Müller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P, Horstmann RD
Nat Genet 1998 Mar;18(3):262-5. doi: 10.1038/ng0398-262. PMID: 9500549

Diagnosis

Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Periñan MT, Amouri R, Ben Sassi S, Hentati F; Global Parkinson's Genetics Program (GP2), Tonelli F, Alessi DR, Farrer MJ
Lancet Neurol 2024 Jun;23(6):603-614. Epub 2024 Apr 10 doi: 10.1016/S1474-4422(24)00121-2. PMID: 38614108Free PMC Article
Sundal C, Fujioka S, Uitti RJ, Wszolek ZK
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S7-10. doi: 10.1016/S1353-8020(11)70005-0. PMID: 22166459
Hattori N
Parkinsonism Relat Disord 2012 Jan;18 Suppl 1:S1-3. doi: 10.1016/S1353-8020(11)70003-7. PMID: 22166400
Lin CH, Tzen KY, Yu CY, Tai CH, Farrer MJ, Wu RM
J Biomed Sci 2008 Sep;15(5):661-7. Epub 2008 Jun 4 doi: 10.1007/s11373-008-9260-0. PMID: 18523869
Tabrizi SJ, Orth M, Wilkinson JM, Taanman JW, Warner TT, Cooper JM, Schapira AH
Hum Mol Genet 2000 Nov 1;9(18):2683-9. doi: 10.1093/hmg/9.18.2683. PMID: 11063727

Prognosis

Smaili I, Tesson C, Regragui W, Bertrand H, Rahmani M, Bouslam N, Benomar A, Brice A, Lesage S, Bouhouche A
J Mol Neurosci 2021 Jan;71(1):142-152. Epub 2020 Jun 16 doi: 10.1007/s12031-020-01635-3. PMID: 32557143
Mata IF, Davis MY, Lopez AN, Dorschner MO, Martinez E, Yearout D, Cholerton BA, Hu SC, Edwards KL, Bird TD, Zabetian CP
Am J Med Genet B Neuropsychiatr Genet 2016 Oct;171(7):925-30. Epub 2016 Apr 25 doi: 10.1002/ajmg.b.32452. PMID: 27111571Free PMC Article
Gasser T, Müller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P, Horstmann RD
Nat Genet 1998 Mar;18(3):262-5. doi: 10.1038/ng0398-262. PMID: 9500549

Clinical prediction guides

Gustavsson EK, Follett J, Trinh J, Barodia SK, Real R, Liu Z, Grant-Peters M, Fox JD, Appel-Cresswell S, Stoessl AJ, Rajput A, Rajput AH, Auer R, Tilney R, Sturm M, Haack TB, Lesage S, Tesson C, Brice A, Vilariño-Güell C, Ryten M, Goldberg MS, West AB, Hu MT, Morris HR, Sharma M, Gan-Or Z, Samanci B, Lis P, Periñan MT, Amouri R, Ben Sassi S, Hentati F; Global Parkinson's Genetics Program (GP2), Tonelli F, Alessi DR, Farrer MJ
Lancet Neurol 2024 Jun;23(6):603-614. Epub 2024 Apr 10 doi: 10.1016/S1474-4422(24)00121-2. PMID: 38614108Free PMC Article
Smaili I, Tesson C, Regragui W, Bertrand H, Rahmani M, Bouslam N, Benomar A, Brice A, Lesage S, Bouhouche A
J Mol Neurosci 2021 Jan;71(1):142-152. Epub 2020 Jun 16 doi: 10.1007/s12031-020-01635-3. PMID: 32557143
Mata IF, Davis MY, Lopez AN, Dorschner MO, Martinez E, Yearout D, Cholerton BA, Hu SC, Edwards KL, Bird TD, Zabetian CP
Am J Med Genet B Neuropsychiatr Genet 2016 Oct;171(7):925-30. Epub 2016 Apr 25 doi: 10.1002/ajmg.b.32452. PMID: 27111571Free PMC Article

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