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Parkinson disease 12(PARK12)

MedGen UID:
337173
Concept ID:
C1845165
Disease or Syndrome
Synonyms: PARK12; PARKINSON DISEASE, X-LINKED
 
Monarch Initiative: MONDO:0010360
OMIM®: 300557

Definition

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. [from MedlinePlus Genetics]

Recent clinical studies

Etiology

Cattaneo D, Gervasoni E, Pupillo E, Bianchi E, Aprile I, Imbimbo I, Russo R, Cruciani A, Jonsdottir J, Agostini M, Beghi E; NEUROFALL Group
Am J Phys Med Rehabil 2020 Jan;99(1):41-47. doi: 10.1097/PHM.0000000000001272. PMID: 31343501
Smith BA, Carlson-Kuhta P, Horak FB
Physiother Res Int 2016 Mar;21(1):36-46. Epub 2014 Nov 28 doi: 10.1002/pri.1615. PMID: 25431128Free PMC Article
Arle JE, Apetauerova D, Zani J, Deletis DV, Penney DL, Hoit D, Gould C, Shils JL
J Neurosurg 2008 Jul;109(1):133-9. doi: 10.3171/JNS/2008/109/7/0133. PMID: 18590444
Purser JL, Pieper CF, Duncan PW, Gold DT, McConnell ES, Schenkman MS, Morey MC, Branch LG
Arch Phys Med Rehabil 1999 May;80(5):557-61. doi: 10.1016/s0003-9993(99)90199-5. PMID: 10326921

Diagnosis

Smith BA, Carlson-Kuhta P, Horak FB
Physiother Res Int 2016 Mar;21(1):36-46. Epub 2014 Nov 28 doi: 10.1002/pri.1615. PMID: 25431128Free PMC Article

Therapy

Morrison BE, Marcondes MC, Nomura DK, Sanchez-Alavez M, Sanchez-Gonzalez A, Saar I, Kim KS, Bartfai T, Maher P, Sugama S, Conti B
J Immunol 2012 Dec 15;189(12):5498-502. Epub 2012 Nov 19 doi: 10.4049/jimmunol.1102150. PMID: 23169588Free PMC Article
Arle JE, Apetauerova D, Zani J, Deletis DV, Penney DL, Hoit D, Gould C, Shils JL
J Neurosurg 2008 Jul;109(1):133-9. doi: 10.3171/JNS/2008/109/7/0133. PMID: 18590444
Purser JL, Pieper CF, Duncan PW, Gold DT, McConnell ES, Schenkman MS, Morey MC, Branch LG
Arch Phys Med Rehabil 1999 May;80(5):557-61. doi: 10.1016/s0003-9993(99)90199-5. PMID: 10326921

Prognosis

Arle JE, Apetauerova D, Zani J, Deletis DV, Penney DL, Hoit D, Gould C, Shils JL
J Neurosurg 2008 Jul;109(1):133-9. doi: 10.3171/JNS/2008/109/7/0133. PMID: 18590444

Clinical prediction guides

Smith BA, Carlson-Kuhta P, Horak FB
Physiother Res Int 2016 Mar;21(1):36-46. Epub 2014 Nov 28 doi: 10.1002/pri.1615. PMID: 25431128Free PMC Article
Arle JE, Apetauerova D, Zani J, Deletis DV, Penney DL, Hoit D, Gould C, Shils JL
J Neurosurg 2008 Jul;109(1):133-9. doi: 10.3171/JNS/2008/109/7/0133. PMID: 18590444
Purser JL, Pieper CF, Duncan PW, Gold DT, McConnell ES, Schenkman MS, Morey MC, Branch LG
Arch Phys Med Rehabil 1999 May;80(5):557-61. doi: 10.1016/s0003-9993(99)90199-5. PMID: 10326921

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