Parkinson's Disease

  •             Parkinson's disease is a progressive nervous disease associated with the destruction of brain cells that produce dopamine and characterized by muscular tremor, slowing of movement, partial facial paralysis, peculiarity of gait and posture, and weakness.

    • AKA Paralysis Agitans, Shaking Palsy, PD, Primary Parkinsonism

-thefreedictionary.com

 

Symptoms

  • Trembling in hands, arms, legs, jaw, and face

  • Stiff or ridged joints

  • patients may have difficulty walking, talking

  • Other symptoms may include depression and other emotional changes; difficulty in swallowing, chewing, and speaking; urinary problems or constipation; skin problems; and sleep disruptions

 

Spectrum of Infection

  • Usually affects people over the age of 50 but can affect younger people

  • 10% of cases are in those under 40

  • Affects 1% to 2% of all people over 60

  • Affects 1,000,000 people in the US alone

  • 20 new cases per 100,000 people

 

Mode of Inheritance

  • Parkinson's Disease is both dominantly inherited and recessively inherited

  • Mutations in the following genes can cause Parkinson's Disease.

    • LRRK2 - Chromosome 12

    • Park 2 - Chromosome 6

    • Park 7 + Pink 1 + GBA - Chromosome 1

    • SNCA + UCHLI1 - Chromosome 5

    • SNCAIP - Chromosome 5

    Human Karyotype Chromosomes 1, 6, 5, 12 are affected by PD

     

  • The genes DJ1, PINK1, and LRRK2 were found in recessively inherited Parkinson's disease, found in a child whose parents never got the disease.

  • However LRRK2 has been reported in families with dominant inheritance. Changes in this gene may account for 5-10% of dominantly inherited Parkinson’s disease

  • In most cases inheriting a non-working copy of a single gene will not cause someone to develop Parkinson's disease

  • Only 15% of people with Parkinson disease have one or more family members who also have the disease.

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