background participants

Participant 221

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.


Female, age 31, with early-onset rapidly progressive dementia

Date of Report

Feb 26, 2024


Prior to age 25, the participant was healthy and was living on her own with a job after graduating from college with a degree in political science. First, the participant started having severe OCD symptoms. The participant was prescribed a low dose of an antidepressant, which seemed to stabilize her symptoms.

At age 26, the participant started encountering difficulties at work, specifically with listening, comprehension, and following directions.

At age 27, the participant was in a car accident. While she was not injured, a witness at the scene said that the participant was acting strangely. She seemed “unfazed” by the accident and didn’t know where she was. She then underwent an MRI and a PET scan, which demonstrated differences in her brain (mild volume loss in the brain more than expected for age, decreased metabolism in the frontal and temporal lobes). Neuropsychiatric evaluation identified cognitive impairment and psychiatric involvement.

At age 28, participant started trials of medications including Effexor, mirtazapine, and Depakote. During the trials, the participant was active, fidgety, agitated, and frequently was unable to control her emotions and would cry for no specific reason.  She also developed obsessions and anxiety about food, which resolved after treatment with topirmate. In October of 2020, she stopped speaking altogether but is still able to understand language. During this time the participant also exhibited disinhibited type behavior such as climbing on furniture, trying to get out of a moving car etc.

At age 29, the participant began to have difficulty swallowing or chewing and began to have difficulties with balance while walking. The following month, the participant started having difficulties in sleeping. She could only sleep two hours per night, often not sleeping at all. Her weight dropped severely, and she passed out twice in a week. She was admitted to an ICU with abnormal sodium levels (175 mEq/L). After the participant got a feeding tube placed and started getting tube feeds, her electrolytes normalized, and her weight improved.

From August of 2021 until June of 2022, the participant had lots of involuntary repetitive movements such as constant pacing, kicking, and wanting to be upside down in a downward facing dog yoga pose. Currently, she needs assistance in all aspects of self-care, grooming, dressing etc. Her ability to stand on her own and walk has diminished greatly in the last six months. She also drools constantly. The participant understands her parents or others when they speak to her and will respond sometimes by pointing or kicking her legs. She is no longer able to write. She was evaluated by a Memory Diagnostic Center and was determined to have cognitive impairment consistent with severe dementia.

Symptoms / Signs
  • Parkinsonism
  • Intentional Tremors
  • Difficulty walking (Gait Disturbance)
  • Increased muscle tone in neck and lower and upper limb (Hypertonia)
  • Brain abnormality (Abnormal cerebellum morphology, Cerebellar atrophy)
  • Tube feeding
  • Inability to speak (Mutism)
  • Drooling
Current Treatments
  • Clonazepam
  • Doxepin
  • Omeprazole
  • Lacutlose
  • Quetiapine
  • Stropine drops (sublingually) for sialorrhea
  • Valporic acid
  • Venlafaxine (Effexor)
  • Carbidopalevadopa
Prior Treatments
  • Effexor
  • Depakote
  • Mirtazapine
  • Topiramate
  • Quetiapine (dystonic movements?)
Considered treatments
  • Carbidopa
  • Levodopa
Previously Considered Diagnoses
  • Amyotrophic lateral sclerosis
  • Early onset Alzheimer’s
  • Frontotemporal dementia
  • Huntington disease
  • Wilson disease
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Chr19: g.4817210A>G
p. Phe394Leu

If this participant sounds like you or someone you know, please contact us!


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