Parkinson disease type 9

From WikiMD

Other Names: Park 9; Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia; KRPPD; Kufor-Rakeb syndrome; Autosomal recessive Parkinson disease 9

Kufor–Rakeb syndrome is an autosomal recessive disorder of juvenile onset also known as Parkinson disease-9 (PARK9). Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.

Genetics

It is associated with mutations in the ATP13A2 gene. This gene is located on the short arm of chromosome 1 .

Mutations in this gene have also been associated with hereditary spastic paraplegia, uncomplicated early - or late-onset parkinsonism and neuronal ceroid lipofuscinosis.

Symptoms

Symptoms include supranuclear gaze palsy, spasticity and dementia. Other features include atypical parkinsonism with pyramidal signs and a characteristic minimyoclonus.

There is considerable variation in the phenotype. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

30%-79% of people have these symptoms

  • Abnormality of finger(Abnormalities of the fingers)
  • Anarthria(Loss of articulate speech)
  • Cerebral cortical atrophy(Decrease in size of the outer layer of the brain due to loss of brain cells)
  • Confusion(Disorientation)
  • Difficulty in tongue movements
  • Difficulty walking(Difficulty in walking)
  • Dyskinesia(Disorder of involuntary muscle movements)
  • Fatigue(Tired)
  • Hypomimic face(Dull facial expression)
  • Leg muscle stiffness
  • Lethargy
  • Myoclonus
  • Oculogyric crisis
  • Short attention span(Poor attention span)
  • Urinary incontinence(Loss of bladder control)
  • Visual hallucinations

Diagnosis

An ultrastructural study of the skin and muscle sample was carried out. Sequence analysis of all protein coding exons and exon-intron boundaries of genes was performed on patient's genomic DNA. A proprietary oligonucleotide-selective sequencing method was used for capturing genomic targets and sequencing was performed using Illumina sequencing system.

Treatment

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.

  • Apomorphine HCL (Brand name: Apokyn®)For the acute, intermittent treatment of hypomobility, "off" episodes ("end-of-dose-wearing-off" and unpredictable :on/off" episodes) associated with advanced Parkinson's disease


NIH genetic and rare disease info

Parkinson disease type 9 is a rare disease.

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WikiMD Resources - Parkinson disease type 9


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