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Early-onset Parkinson disease 20(PARK20)

MedGen UID:
816154
Concept ID:
C3809824
Disease or Syndrome
Synonyms: PARK20; PARKINSON DISEASE 20, EARLY-ONSET
 
Gene (location): SYNJ1 (21q22.11)
 
Monarch Initiative: MONDO:0014233
OMIM®: 615530

Definition

Parkinson disease-20 is an autosomal recessive neurodegenerative disorder characterized by young adult-onset of parkinsonism. Additional features may include seizures, cognitive decline, abnormal eye movements, and dystonia (summary by Krebs et al., 2013 and Quadri et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (168600). [from OMIM]

Clinical features

From HPO
Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
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.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Shuffling gait
MedGen UID:
68545
Concept ID:
C0231688
Finding
A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.
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).
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.
Involuntary movements
MedGen UID:
140884
Concept ID:
C0427086
Sign or Symptom
Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk.
Postural instability
MedGen UID:
334529
Concept ID:
C1843921
Finding
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
Short stepped shuffling gait
MedGen UID:
812045
Concept ID:
C3805715
Finding
Stooped posture
MedGen UID:
1393424
Concept ID:
C4476759
Finding
A habitual positioning of the body with the head and upper back bent forward.
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.
Leg muscle stiffness
MedGen UID:
870176
Concept ID:
C4024610
Sign or Symptom
Weak voice
MedGen UID:
66033
Concept ID:
C0241700
Finding
Reduced intensity (volume) of speech.
Eyelid apraxia
MedGen UID:
222979
Concept ID:
C1142448
Finding
Supranuclear gaze palsy
MedGen UID:
314030
Concept ID:
C1720037
Disease or Syndrome
A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
Staring gaze
MedGen UID:
816157
Concept ID:
C3809827
Finding
An abnormality in which the eyes are held permanently wide open.

Professional guidelines

PubMed

Magrinelli F, Mehta S, Di Lazzaro G, Latorre A, Edwards MJ, Balint B, Basu P, Kobylecki C, Groppa S, Hegde A, Mulroy E, Estevez-Fraga C, Arora A, Kumar H, Schneider SA, Lewis PA, Jaunmuktane Z, Revesz T, Gandhi S, Wood NW, Hardy JA, Tinazzi M, Lal V, Houlden H, Bhatia KP
Mov Disord 2022 Jan;37(1):148-161. Epub 2021 Oct 8 doi: 10.1002/mds.28807. PMID: 34622992
Petrucci S, Ginevrino M, Trezzi I, Monfrini E, Ricciardi L, Albanese A, Avenali M, Barone P, Bentivoglio AR, Bonifati V, Bove F, Bonanni L, Brusa L, Cereda C, Cossu G, Criscuolo C, Dati G, De Rosa A, Eleopra R, Fabbrini G, Fadda L, Garbellini M, Minafra B, Onofrj M, Pacchetti C, Palmieri I, Pellecchia MT, Petracca M, Picillo M, Pisani A, Vallelunga A, Zangaglia R, Di Fonzo A, Morgante F, Valente EM; ITA-GENE-PD Study Group
Mov Disord 2020 Nov;35(11):2106-2111. Epub 2020 Jul 13 doi: 10.1002/mds.28195. PMID: 32658388
Senard JM, Brefel-Courbon C, Rascol O, Montastruc JL
Drugs Aging 2001;18(7):495-505. doi: 10.2165/00002512-200118070-00003. PMID: 11482743

Recent clinical studies

Etiology

Chen YP, Yu SH, Zhang GH, Hou YB, Gu XJ, Ou RW, Shen Y, Song W, Chen XP, Zhao B, Cao B, Zhang LY, Sun MM, Liu FF, Wei QQ, Liu KC, Lin JY, Yang TM, Yang J, Wu Y, Jiang Z, Liu J, Cheng YF, Xiao Y, Su WM, Feng F, Cai YY, Li SR, Hu T, Yuan XQ, Zhou QQ, Shao N, Ma S, Shang HF
Eur J Neurol 2022 Nov;29(11):3218-3228. Epub 2022 Aug 4 doi: 10.1111/ene.15509. PMID: 35861376
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Ou R, Wei Q, Hou Y, Zhang L, Liu K, Kong X, Li S, Wang L, Xu X, Gu X, Lin J, Jiang Z, Liu J, Song W, Cao B, Shang H
J Neurol 2021 May;268(5):1876-1884. Epub 2021 Jan 4 doi: 10.1007/s00415-020-10333-4. PMID: 33392638
Blauwendraat C, Nalls MA, Singleton AB
Lancet Neurol 2020 Feb;19(2):170-178. Epub 2019 Sep 11 doi: 10.1016/S1474-4422(19)30287-X. PMID: 31521533Free PMC Article
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT Jr, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Andre Uitterlinden AG, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossù P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y, Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, C O'Donovan M, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA; Alzheimer Disease Genetics Consortium (ADGC),; European Alzheimer’s Disease Initiative (EADI),; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE),; Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES),
Nat Genet 2019 Mar;51(3):414-430. Epub 2019 Feb 28 doi: 10.1038/s41588-019-0358-2. PMID: 30820047Free PMC Article

Diagnosis

Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Ou R, Wei Q, Hou Y, Zhang L, Liu K, Kong X, Li S, Wang L, Xu X, Gu X, Lin J, Jiang Z, Liu J, Song W, Cao B, Shang H
J Neurol 2021 May;268(5):1876-1884. Epub 2021 Jan 4 doi: 10.1007/s00415-020-10333-4. PMID: 33392638
Blauwendraat C, Nalls MA, Singleton AB
Lancet Neurol 2020 Feb;19(2):170-178. Epub 2019 Sep 11 doi: 10.1016/S1474-4422(19)30287-X. PMID: 31521533Free PMC Article
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen Y, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu L, Bacq D, Denning N, Jian X, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin H, Fairchild TJ, Benito YA, Holmes C, Karamujić-Čomić H, Frosch MP, Thonberg H, Maier W, Roshchupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernández I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT Jr, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Andre Uitterlinden AG, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, George-Hyslop PS, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo Á, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frölich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao C, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kölsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hüll M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jöckel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nöthen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossù P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y, Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, C O'Donovan M, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA; Alzheimer Disease Genetics Consortium (ADGC),; European Alzheimer’s Disease Initiative (EADI),; Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE),; Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES),
Nat Genet 2019 Mar;51(3):414-430. Epub 2019 Feb 28 doi: 10.1038/s41588-019-0358-2. PMID: 30820047Free PMC Article
Giovannini P, Piccolo I, Genitrini S, Soliveri P, Girotti F, Geminiani G, Scigliano G, Caraceni T
Mov Disord 1991;6(1):36-42. doi: 10.1002/mds.870060107. PMID: 2005920

Therapy

Sjögren M, Huttunen HJ, Svenningsson P, Widner H
Genes (Basel) 2021 Sep 28;12(10) doi: 10.3390/genes12101529. PMID: 34680924Free PMC Article
Li GH, Ge GM, Cheung CL, Ip P, Coghill D, Wong IC
Eur Neuropsychopharmacol 2020 Aug;37:49-63. Epub 2020 Jun 18 doi: 10.1016/j.euroneuro.2020.06.001. PMID: 32565043
Castro-Martínez XH, García-Ruiz PJ, Martínez-García C, Martínez-Castrillo JC, Vela L, Mata M, Martínez-Torres I, Feliz-Feliz C, Palau F, Hoenicka J
Parkinsonism Relat Disord 2018 Apr;49:100-103. Epub 2018 Jan 12 doi: 10.1016/j.parkreldis.2018.01.010. PMID: 29361389
Abbas MM, Govindappa ST, Sudhaman S, Thelma BK, Juyal RC, Behari M, Muthane UB
Parkinsonism Relat Disord 2016 Nov;32:20-24. Epub 2016 Apr 24 doi: 10.1016/j.parkreldis.2016.04.024. PMID: 27592010
Giovannini P, Piccolo I, Genitrini S, Soliveri P, Girotti F, Geminiani G, Scigliano G, Caraceni T
Mov Disord 1991;6(1):36-42. doi: 10.1002/mds.870060107. PMID: 2005920

Prognosis

Watzlawik JO, Fiesel FC, Fiorino G, Bustillos BA, Baninameh Z, Markham BN, Hou X, Hayes CS, Bredenberg JM, Kurchaba NW, Fričová D, Siuda J, Wszolek ZK, Noda S, Sato S, Hattori N, Prasad AA, Kirik D, Fox HS, Stauch KL, Goldberg MS, Springer W
Autophagy 2024 May;20(5):1147-1158. Epub 2023 Dec 2 doi: 10.1080/15548627.2023.2286414. PMID: 38041584Free PMC Article
Andrews SV, Kukkle PL, Menon R, Geetha TS, Goyal V, Kandadai RM, Kumar H, Borgohain R, Mukherjee A, Wadia PM, Yadav R, Desai S, Kumar N, Joshi D, Murugan S, Biswas A, Pal PK, Oliver M, Nair S, Kayalvizhi A, Samson PL, Deshmukh M, Bassi A, Sandeep C, Mandloi N, Davis OB, Roberts MA, Leto DE, Henry AG, Di Paolo G, Muthane U, Das SK, Peterson AS, Sandmann T, Gupta R, Ramprasad VL; Parkinson Research Alliance of India (PRAI)
Mov Disord 2024 Feb;39(2):339-349. Epub 2023 Nov 28 doi: 10.1002/mds.29676. PMID: 38014556
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Ou R, Wei Q, Hou Y, Zhang L, Liu K, Kong X, Li S, Wang L, Xu X, Gu X, Lin J, Jiang Z, Liu J, Song W, Cao B, Shang H
J Neurol 2021 May;268(5):1876-1884. Epub 2021 Jan 4 doi: 10.1007/s00415-020-10333-4. PMID: 33392638
Šimić G, Babić Leko M, Wray S, Harrington CR, Delalle I, Jovanov-Milošević N, Bažadona D, Buée L, de Silva R, Di Giovanni G, Wischik CM, Hof PR
Prog Neurobiol 2017 Apr;151:101-138. Epub 2016 Apr 12 doi: 10.1016/j.pneurobio.2016.04.001. PMID: 27084356Free PMC Article

Clinical prediction guides

Andrews SV, Kukkle PL, Menon R, Geetha TS, Goyal V, Kandadai RM, Kumar H, Borgohain R, Mukherjee A, Wadia PM, Yadav R, Desai S, Kumar N, Joshi D, Murugan S, Biswas A, Pal PK, Oliver M, Nair S, Kayalvizhi A, Samson PL, Deshmukh M, Bassi A, Sandeep C, Mandloi N, Davis OB, Roberts MA, Leto DE, Henry AG, Di Paolo G, Muthane U, Das SK, Peterson AS, Sandmann T, Gupta R, Ramprasad VL; Parkinson Research Alliance of India (PRAI)
Mov Disord 2024 Feb;39(2):339-349. Epub 2023 Nov 28 doi: 10.1002/mds.29676. PMID: 38014556
Kim J, Jang H, Park YH, Youn J, Seo SW, Kim HJ, Na DL
J Alzheimers Dis 2023;91(1):345-354. doi: 10.3233/JAD-220745. PMID: 36404549
Ou R, Wei Q, Hou Y, Zhang L, Liu K, Kong X, Li S, Wang L, Xu X, Gu X, Lin J, Jiang Z, Liu J, Song W, Cao B, Shang H
J Neurol 2021 May;268(5):1876-1884. Epub 2021 Jan 4 doi: 10.1007/s00415-020-10333-4. PMID: 33392638
Alves G, Lange J, Blennow K, Zetterberg H, Andreasson U, Førland MG, Tysnes OB, Larsen JP, Pedersen KF
Neurology 2014 May 20;82(20):1784-90. Epub 2014 Apr 18 doi: 10.1212/WNL.0000000000000425. PMID: 24748671
Giovannini P, Piccolo I, Genitrini S, Soliveri P, Girotti F, Geminiani G, Scigliano G, Caraceni T
Mov Disord 1991;6(1):36-42. doi: 10.1002/mds.870060107. PMID: 2005920

Recent systematic reviews

Jones MB, Gibson L, Gimenez-Zapiola M, Guerra A, Bhatti G, Broadway D, Tea J, Prasad A, Gates R, Hinton E, Jorge RE, Marsh L
J Acad Consult Liaison Psychiatry 2024 Jul-Aug;65(4):366-378. Epub 2024 Feb 2 doi: 10.1016/j.jaclp.2024.01.007. PMID: 38311061Free PMC Article
Magrinelli F, Mehta S, Di Lazzaro G, Latorre A, Edwards MJ, Balint B, Basu P, Kobylecki C, Groppa S, Hegde A, Mulroy E, Estevez-Fraga C, Arora A, Kumar H, Schneider SA, Lewis PA, Jaunmuktane Z, Revesz T, Gandhi S, Wood NW, Hardy JA, Tinazzi M, Lal V, Houlden H, Bhatia KP
Mov Disord 2022 Jan;37(1):148-161. Epub 2021 Oct 8 doi: 10.1002/mds.28807. PMID: 34622992

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