Concomitant fragile X-associated tremor ataxia syndrome and Parkinson's disease: a clinicopathological report of two cases

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 86; no. 8; pp. 934 - 936
• Main Authors: De Pablo-Fernandez, Eduardo, Doherty, Karen M, Holton, Janice L, Revesz, Tamas, Djamshidian, Atbin, Limousin, Patricia, Bhatia, Kailash P, Warner, Thomas T, Lees, Andrew J, Ling, Helen
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.08.2015; BMJ Publishing Group
• Series: Letter
• Subjects: Age; Aged; Alzheimer's disease; Ataxia; Ataxia - complications; Ataxia - genetics; Ataxia - pathology; Ataxia - physiopathology; Brain - pathology; Brain - physiopathology; Brain research; Dopamine; Fragile X Mental Retardation Protein - genetics; Fragile X Syndrome - complications; Fragile X Syndrome - genetics; Fragile X Syndrome - pathology; Fragile X Syndrome - physiopathology; Humans; Male; Males; Multiple sclerosis; Mutation - genetics; Neurological disorders; Neuropathology; Parkinson Disease - complications; Parkinson Disease - genetics; Parkinson Disease - pathology; Parkinson Disease - physiopathology; Parkinson's disease; Pathology; Patients; PostScript; Tremor - complications; Tremor - genetics; Tremor - pathology; Tremor - physiopathology; Young Adult; TREMOR; CEREBELLAR ATAXIA; PARKINSON'S DISEASE; FRAGILE X SYNDROME
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/jnnp-2014-309460

Methods Genetic testing for FXTAS was requested in seven cases from the Queen Square Brain Bank for Neurological Disorders (QSBB) based on the characteristic radiological 'middle cerebellar peduncle' (MCP) sign (case 1, diagnosis confirmed in life) and histological findings of round, eosinophilic p62-positive neuronal intranuclear inclusions in the hippocampus or unexplained cerebellar degeneration (6 postmortem cases were tested). [...]at age 51, the deterioration of hand tremor, relentless progression of parkinsonism and the onset of typical features of PD including jaw and tongue tremor collectively marked the onset of an additional underlying neurodegenerative process of PD. Both cases had a relatively benign course in the first decade of symptom onset followed by rapidly progressive parkinsonism and motor disability leading to death.