A Case of Early-Onset Rapidly Progressive Dementia

Abstract

A 62-year-old man originally from Ghana presented with a 2-month history of rapidly progressive cognitive decline. The patient was unable to continue managing the family finances, quit his job as a respiratory therapist, and was neglecting his personal hygiene. He was noted to have occasional word-finding difficulties and his handwriting became less legible. He was having increasing problems with gait instability, leading to many near falls. Further questioning revealed that subtle cognitive changes had started about 1 year prior to presentation, with the patient's wife noticing that her husband was avoiding driving on highways due to the fear of getting lost, forgetting directions, and becoming more argumentative. He was previously in good health except for a history of coronary artery bypass surgery and hypertension. There was no history of exposure to toxic chemicals or chemotherapy for any malignant tumors. His last visit to Ghana was 6 years prior to presentation. On physical examination, spasticity in the lower extremities was noted with a spasticataxic gait. Reflexes at the knees were brisker than in the arms (3+), with nonsustained clonus at both ankles. A positive Hoffman sign was present bilaterally. Plantar responses were flexor bilaterally. A startle reflex was absent. Mental status examination revealed disorientation to date and significantly impaired short-term recall and visuospatial memory with limited attention span. Speech was tangential and fluent, with frequent paraphasic errors and difficulty naming objects. Dilated eye examination results were normal.

Rapidly Progressive Dementia

“…Autopsy showed an adult-onset case of cerebroretinal microangiopathy with calcifications and cysts. 33 Another rare vascular cause of RPD is subacute diencephalic angioencephalopathy, which is considered a severe form of posterior reversible encephalopathy syndrome (PRES). Approximately seven cases of subacute diencephalic angioencephalopathy have been reported to date and are characterized by acute cognitive changes with rapid progression to death, bilateral thalamic involvement, and profound vasculopathy with noninflammatory parenchymal necrosis.…”

Random forest-integrated analysis in AD and LATE brain transcriptome-wide data to identify disease-specific gene expression

“…The 23rd and 24th ranked genes, ARMCX6 and BRD4 , were linked to impairments in cognition and memory [ 44 – 46 ], which are regarded as the common symptoms of dementia. The 26th ranked gene PCDH12 was previously associated with brain calcifications [ 47 ], which could cause memory loss, personality changes, and diminished intellectual function [ 53 ], thereby potentially leading to psychosis or neurocognitive disorder [ 54 , 55 ]. The 31st ranked gene HSFY1 was found to affect APOE4 genotypes, while the patients with different APOE4 genotypes, such as APOE4-negative and APOE4-positive, possibly have different decline speeds on language, attention, executive, and visuospatial functioning [ 56 ].…”