Presentation Time: 1115-1135 Arnulf H. Koeppen, Jiang Qian, Peter Bauer Research Service, Veterans Affairs Medical Center, Albany, NY 12208 USA Department of Pathology, Albany Medical College, Albany, NY 12208 USA Centogene, Rostock, Germany
Abstract This 68-year-old woman with ataxia was admitted to a hospital in a state of severe illness and died shortly after admission. Clinical data came from the office notes of her neurologist. The autopsy was delayed by 3 days, but frozen and fixed tissues arrived in Albany, NY, for diagnosis and further study. The patient began being ataxic late in life, perhaps as late as age 50. For many years, the diagnosis was Friedreich ataxia (FA), but her physicians were also concerned over behavioral changes and diagnosed frontotemporal dementia. The neurological examination was also unusual because of leg spasticity and hyperreflexia. Babinski signs were recorded on several occasions. The patient had no heart disease or diabetes mellitus. She did not tolerate donepezil for memory failure but was better on memantine. While genetic testing was mentioned in many office notes, the laboratory record did not include an analysis of guanine-adenine-adenine (GAA) trinucleotide repeat expansions in support of FA. The clinical notes contained reports of multiple CT scans and at least 2 MRI of the brain. Both techniques revealed severe cerebellar atrophy, Deoxyribonucleic acid was extracted from the cerebellar cortex and forwarded to Contogene, Rostock, Germany, for analysis. Submitted material: 2 H&E-stained sections of cerebellum and hippocampus
1. The Diagnosis? 2. The Pathogenesis?
Alzheimer disease with heterozygous NPC1 mutation