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Parkinson disease 2(PARK2)

MedGen UID:
401500
Concept ID:
C1868675
Disease or Syndrome
Synonyms: Juvenile parkinsonism; PARK2; Parkin Type of Early-Onset Parkinson Disease; Parkin Type of Juvenile Parkinson Disease; PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE; Parkinson disease autosomal recessive, early onset; Parkinson disease, juvenile, autosomal recessive; Parkinsonism, early onset, with diurnal fluctuation
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: PARK2
Cytogenetic location: 6q26
OMIM: 600116

Definition

Parkin type of early-onset Parkinson disease is characterized by rigidity, bradykinesia, and resting tremor. Lower-limb dystonia may be a presenting sign. Onset usually occurs between ages 20 and 40 years with an average age of onset in the early to mid-thirties. The disease is slowly progressive and disease duration of more than 50 years has been reported. Clinical signs vary; hyperreflexia is common. Dyskinesia as a result of treatment with levodopa frequently occurs. [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

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).
Substantia nigra gliosis
MedGen UID:
507152
Concept ID:
CN167686
Finding
The presence of `gliosis` (MPATH:182) in the `substantia nigra` (FMA:67947).

Recent clinical studies

Etiology

Spielman J, Mahler L, Halpern A, Gilley P, Klepitskaya O, Ramig L
J Commun Disord 2011 Nov-Dec;44(6):688-700. Epub 2011 Jun 13 doi: 10.1016/j.jcomdis.2011.05.003. [Epub ahead of print] PMID: 21724193Free PMC Article
Olanow CW
Arch Neurol 2000 Feb;57(2):263-7. PMID: 10681087

Diagnosis

Kim JY, Kim SY, Kim JM, Kim YK, Yoon KY, Kim JY, Lee BC, Kim JS, Paek SH, Park SS, Kim SE, Jeon BS
Neurology 2009 Apr 21;72(16):1385-9. doi: 10.1212/WNL.0b013e3181a18876. PMID: 19380697
Weismer G, Laures JS
J Speech Lang Hear Res 2002 Jun;45(3):421-33. PMID: 12068996

Therapy

del Pozo-Cruz B, Adsuar JC, Parraca JA, del Pozo-Cruz J, Olivares PR, Gusi N
J Altern Complement Med 2012 Jan;18(1):29-41. Epub 2012 Jan 10 doi: 10.1089/acm.2010.0691. [Epub ahead of print] PMID: 22233167
Spielman J, Mahler L, Halpern A, Gilley P, Klepitskaya O, Ramig L
J Commun Disord 2011 Nov-Dec;44(6):688-700. Epub 2011 Jun 13 doi: 10.1016/j.jcomdis.2011.05.003. [Epub ahead of print] PMID: 21724193Free PMC Article
Olanow CW
Arch Neurol 2000 Feb;57(2):263-7. PMID: 10681087
Tourtellotte WW, Potvin AR, Syndulko K, Hirsch SB, Gilden ER, Potvin JH, Hansch EC
Prog Neuropsychopharmacol Biol Psychiatry 1982;6(1):51-5. PMID: 7202230

Prognosis

Kim JY, Kim SY, Kim JM, Kim YK, Yoon KY, Kim JY, Lee BC, Kim JS, Paek SH, Park SS, Kim SE, Jeon BS
Neurology 2009 Apr 21;72(16):1385-9. doi: 10.1212/WNL.0b013e3181a18876. PMID: 19380697

Clinical prediction guides

Spielman J, Mahler L, Halpern A, Gilley P, Klepitskaya O, Ramig L
J Commun Disord 2011 Nov-Dec;44(6):688-700. Epub 2011 Jun 13 doi: 10.1016/j.jcomdis.2011.05.003. [Epub ahead of print] PMID: 21724193Free PMC Article
Kim JY, Kim SY, Kim JM, Kim YK, Yoon KY, Kim JY, Lee BC, Kim JS, Paek SH, Park SS, Kim SE, Jeon BS
Neurology 2009 Apr 21;72(16):1385-9. doi: 10.1212/WNL.0b013e3181a18876. PMID: 19380697

Recent systematic reviews

del Pozo-Cruz B, Adsuar JC, Parraca JA, del Pozo-Cruz J, Olivares PR, Gusi N
J Altern Complement Med 2012 Jan;18(1):29-41. Epub 2012 Jan 10 doi: 10.1089/acm.2010.0691. [Epub ahead of print] PMID: 22233167

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