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Washington University Experience | NEURODEGENERATION | Neuronal Nuclear Inclusion Disease (NIID) | 1A0 Case 1 History
Case 1 History ---- The patient is a 19 year old female with a history of resting and action tremor in both hands beginning at the age of 13. Slowness and stiffness of motion resulted in a diagnosis of juvenile Parkinson's disease in 2003. Sinemet treatment at that time provided some improvement. The patient subsequently developed mild memory problems. There were no pigmentary changes in the retina. CSF analysis showed no evidence of 14-3-3 protein. EEG showed abnormal generalized epileptiform discharges. Motor and sensory nerve conduction studies suggested an axonal neuropathy. Metabolic studies of serum amino and urine organic acids did not allow the diagnosis of a named disorder. Other studies showed normal ceruloplasmin, vitamin B12, carnitine profile and normal activities of electron transport chain complexes in skeletal muscle. Fibroblast fat oxidation studies were essentially normal. MRI was thought to show possible early atrophy of the cerebrum and cerebellum. MR spectroscopy was normal. FDG PET showed no abnormalities in tracer accumulation. F-DOPA PET showed decreased symmetrical uptake in the putamen and possibly caudate nucleus. Genetic testing showed no increase in repeat CAG repeat sizes, no evidence of juvenile NCL, spinocerebellar atrophy 3 (SCA3), cyclohydrolase 1 or parkin gene defects. Additionally, there was no evidence of mucolipidosis or very long chain fatty acid accumulation. EM of skin showed no abnormalities. The patient's family history is remarkable for tremors involving a maternal great-uncle, great-grandfather and 2 paternal cousins. A frontal lobe biopsy was performed.
