A Young Man With Progressive Language Difficulty and Early-Onset Dementia

Abstract

A right-handed man in his late 40s with 12 years of education presented with a 1.5-year history of cognitive decline, characterized by gradually increasing difficulty expressing his thoughts and ideas. His family noted word-finding difficulty but no problems with his memory for recent events. Two of his relatives developed dementia in their 70s.His initial mental status examination findings were notable for problems with calculation, abstraction, and recall, while his language examination revealed difficulty following complex commands and anomia on confrontational naming with intact repetition. His neurologic examination findings were otherwise normal.Findings of an extensive workup, including laboratory studies and neuroimaging, were unremarkable. He returned a few months later, at which point neuropsychometric testing revealed markedly impaired category and letter fluency, impaired registration on logical and audio-verbal memory, poor comprehension of complex instructions, and severe anomia.At follow-up 2 years after his initial presentation, he had developed more comprehension difficulties and had resorted to pointing at objects because of his profound word-finding difficulty. At 4-year follow-up, his memory for recent events as well as his reasoning abilities had declined, although he still was independent in most of his activities of daily living including managing medications, driving, and dressing. He could read some words in the newspaper but could not understand what they meant. The following year, he was noted to have more difficulty with concepts and planning and was unable to name or demonstrate the use of a knife or a saw. His vocabulary became more restricted, and he often used the word "job" instead of specific nouns. At his last follow-up 10 years after symptom onset, he had very few vocalizations and minimal comprehension. He also had developed apathy, a preference for sweets, and disinhibition. He had no eye movement abnormalities, no pyramidal or extrapyramidal signs, and no hallucinations. He became mute, moved into a skilled nursing facility shortly afterward, and was dependent in all activities of daily living until he died more than a decade later, 22 years after symptom onset.