Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?

• Published in: Movement disorders 2005-08, Vol.20 (8), p.1060-1062
• Main Authors: Hedrich, Katja, Pramstaller, Peter P., Stübke, Katrin, Hiller, Anja, Kabakci, Kemal, Purmann, Sabine, Kasten, Meike, Scaglione, Cesa, Schwinger, Eberhard, Volkmann, Jens, Kostic, Vladimir, Vieregge, Peter, Martinelli, Paolo, Abbruzzese, Giovanni, Klein, Christine, Zühlke, Christine
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Alleles; Biological and medical sciences; CGG repeat; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; DNA Mutational Analysis; Female; FMR1; Fragile X Mental Retardation Protein; Fragile X Syndrome - genetics; Genetic Linkage - genetics; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Magnetic Resonance Imaging - methods; Male; Medical sciences; Middle Aged; Nerve Tissue Proteins - genetics; Nervous system (semeiology, syndromes); Neurology; Parkin mutation; Parkinson Disease - genetics; Parkinson Disease - pathology; parkinsonism; Reverse Transcriptase Polymerase Chain Reaction - methods; RNA, Messenger - biosynthesis; RNA-Binding Proteins - genetics; Sex Factors; Trinucleotide Repeats - genetics; Ubiquitin-Protein Ligases - genetics
• ISSN: 0885-3185; 1531-8257
• DOI: 10.1002/mds.20512

Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation carriers (2 patients, 1 control). Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation. © 2005 Movement Disorder Society