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Early onset Alzheimer's disease - a case study.
Beata Łabuz-Roszak1, Magdalena Torbus-Paluszczak2, Janusz Becelewski3
1Katedra i Zakład Podstawowych Nauk Medycznych, Wydział Nauk o Zdrowiu w Bytomiu, Śląski Uniwersytet Medyczny w Katowicach.
Psychiatria Polska
|August 8, 2021
Summary
Early-onset dementia (EOD) affects individuals under 65. This case highlights early-onset Alzheimer's disease in a 33-year-old, confirmed by genetic testing, emphasizing the need for timely diagnosis.
Area of Science:
- Neurology
- Neurodegenerative Diseases
- Genetics
Background:
- Early-onset dementia (EOD) affects individuals under 65, impacting their most productive years.
- EOD accounts for 4-10% of dementia cases, carrying significant psychosocial consequences.
- Common causes include Alzheimer's disease, vascular dementia, and frontotemporal dementia.
Observation:
- A 33-year-old patient presented with cognitive dysfunction, speech disorders, and Parkinsonian features over 15 months.
- Cerebral MRI revealed significant cortical and subcortical atrophy, particularly in parietal and temporal lobes.
- Cerebrospinal fluid analysis showed decreased beta-amyloid and elevated H-tau levels.
Findings:
- The patient was diagnosed with early-onset Alzheimer's disease.
- Genetic testing confirmed a heterozygous sequence change in the presenilin 1 gene.
Implications:
- This case underscores the importance of considering Alzheimer's disease in young patients with progressive neurological symptoms.
- Genetic testing plays a crucial role in confirming the diagnosis of early-onset Alzheimer's disease.
- Timely diagnosis of EOD is essential for appropriate management and support.
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