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Participant 208


On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.

 

Male, age 39, with slurred speech, problems with coordination, and cognitive problems caused by a change in the ATP13A2 gene

Date of Report

Dec 06, 2022

Description

Early in life, the participant met most developmental milestones, although he began walking at 18 months. Most of his symptoms did not appear until age 35 when he started to experience memory loss, dizziness, and slurred speech (dysarthria).

A few years later, the participant began to have balance difficulties (ataxia), which resulted in some falls. A neurological evaluation later confirmed these observations. Within a 4-year time period, the participant and his family noticed his symptoms rapidly progressing.

Symptoms / Signs
  • Cognitive problems (dizziness, memory loss)
  • Slurred speech (dysarthria)
  • Problems with coordination (ataxia)
  • Dizziness (vertigo)
  • Brain abnormalities (moderate cerebellar and mild cortical atrophy)
  • Balancing difficulties
Current Treatments
Prior Treatments
Considered treatments
  • Check weight monthly
  • Check liver function
  • Consult with neurologist for therapeutic options
  • Modify home environment to reduce fall risk
  • Monitor for choking
  • Speech therapy
Previously Considered Diagnoses
  • Ataxia telangiectasia
  • Autosomal recessive storage disease
  • Episodic ataxia
  • Hereditary ataxia syndromes
  • Hereditary neuropathies
  • Hereditary spastic paraplegia
  • Mitochondrial disease
  • Slow virus
Other Photographs
Genetic Variants of Interest

Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:

Gene
Inheritance Pattern
Position (hg19)
Transcript
DNA Change
Protein Change
ATP13A2
Autosomal recessive
chr1:g.17323669_ 17323670del & g.17313567del
NM_022089.4
c.1045_1046del & c.3057del
p.Ser349HisfsTer74 & p.Tyr1020ThrfsTer3
Contact

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