Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited. 2014

Yu-Qiong Niu, and Jin-Chen Yang, and Deborah A Hall, and Maureen A Leehey, and Flora Tassone, and John M Olichney, and Randi J Hagerman, and Lin Zhang
Department of Neurology, University of California Davis, Sacramento, CA, USA; Center for Mind and Brain, University of California Davis, Davis, CA, USA. Electronic address: niuyq2006@gmail.com.

BACKGROUND Parkinsonian features have been used as a minor diagnostic criterion for fragile X-associated tremor/ataxia syndrome (FXTAS). However, prior studies have examined parkinsonism (defined as having bradykinesia with at least rest tremor or postural instability) mostly in premutation carriers without a diagnosis of FXTAS. The current study was intended to elaborate this important aspect of the FXTAS spectrum, and to quantify the relationships between parkinsonism, FXTAS clinical staging and genetic/molecular measures. METHODS Thirty eight (38) FXTAS patients and 10 age-matched normal controls underwent a detailed neurological examination that included all but one item (i.e. rigidity) of the motor section of the Unified Parkinson's Disease Rating Scale (UPDRS). RESULTS The FXTAS patient group displayed substantially higher prevalence of parkinsonian features including body bradykinesia (57%) and rest tremor (26%), compared to the control group. Furthermore, parkinsonism was identified in 29% of FXTAS patients. Across all patients, body bradykinesia scores significantly correlated with FXTAS clinical stage, FMR1 mRNA level, and ataxic gait of cerebellar origin, while postural instability was associated with intention tremor. CONCLUSIONS Parkinsonian features in FXTAS appear to be characterized as bradykinesia concurrent with cerebellar gait ataxia, postural instability accompanied by intention tremor, and frequent rest tremor, representing distinctive patterns that highlight the need for further clinical studies including genetic testing for the FMR1 premutation. The association between FMR1 mRNA level and bradykinesia implicates pathophysiological mechanisms which may link FMR1 mRNA toxicity, dopamine deficiency and parkinsonism in FXTAS.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D005260 Female Females
D005600 Fragile X Syndrome A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226) FRAXA Syndrome,FRAXE Syndrome,Martin-Bell Syndrome,Fra(X) Syndrome,Fragile X Mental Retardation Syndrome,Fragile X-F Mental Retardation Syndrome,Mar (X) Syndrome,Marker X Syndrome,Mental Retardation, X-Linked, Associated With Fragile Site Fraxe,Mental Retardation, X-Linked, Associated With Marxq28,X-Linked Mental Retardation and Macroorchidism,FRAXA Syndromes,FRAXE Syndromes,Fragile X Syndromes,Marker X Syndromes,Martin Bell Syndrome,Syndrome, FRAXA,Syndrome, FRAXE,Syndrome, Fragile X,Syndrome, Marker X,Syndrome, Martin-Bell,Syndromes, FRAXA,Syndromes, FRAXE,Syndromes, Fragile X,Syndromes, Marker X,X Linked Mental Retardation and Macroorchidism
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D001259 Ataxia Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions. Coordination Impairment,Dyssynergia,Incoordination,Ataxia, Appendicular,Ataxia, Limb,Ataxia, Motor,Ataxia, Sensory,Ataxia, Truncal,Ataxy,Dyscoordination,Lack of Coordination,Tremor, Rubral,Appendicular Ataxia,Appendicular Ataxias,Ataxias,Ataxias, Appendicular,Ataxias, Limb,Ataxias, Motor,Ataxias, Sensory,Ataxias, Truncal,Coordination Impairments,Coordination Lack,Impairment, Coordination,Impairments, Coordination,Incoordinations,Limb Ataxia,Limb Ataxias,Motor Ataxia,Motor Ataxias,Rubral Tremor,Rubral Tremors,Sensory Ataxia,Sensory Ataxias,Tremors, Rubral,Truncal Ataxia,Truncal Ataxias
D012189 Retrospective Studies Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons. Retrospective Study,Studies, Retrospective,Study, Retrospective
D012333 RNA, Messenger RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm. Messenger RNA,Messenger RNA, Polyadenylated,Poly(A) Tail,Poly(A)+ RNA,Poly(A)+ mRNA,RNA, Messenger, Polyadenylated,RNA, Polyadenylated,mRNA,mRNA, Non-Polyadenylated,mRNA, Polyadenylated,Non-Polyadenylated mRNA,Poly(A) RNA,Polyadenylated mRNA,Non Polyadenylated mRNA,Polyadenylated Messenger RNA,Polyadenylated RNA,RNA, Polyadenylated Messenger,mRNA, Non Polyadenylated
D014202 Tremor Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE. Action Tremor,Intention Tremor,Resting Tremor,Coarse Tremor,Continuous Tremor,Darkness Tremor,Fine Tremor,Intermittent Tremor,Involuntary Quiver,Massive Tremor,Passive Tremor,Persistent Tremor,Pill Rolling Tremor,Rest Tremor,Saturnine Tremor,Senile Tremor,Static Tremor,Tremor, Limb,Tremor, Muscle,Tremor, Neonatal,Tremor, Nerve,Tremor, Perioral,Tremor, Semirhythmic,Action Tremors,Coarse Tremors,Continuous Tremors,Darkness Tremors,Fine Tremors,Intention Tremors,Intermittent Tremors,Involuntary Quivers,Limb Tremor,Limb Tremors,Massive Tremors,Muscle Tremor,Muscle Tremors,Neonatal Tremor,Neonatal Tremors,Nerve Tremor,Nerve Tremors,Passive Tremors,Perioral Tremor,Perioral Tremors,Persistent Tremors,Pill Rolling Tremors,Quiver, Involuntary,Rest Tremors,Resting Tremors,Saturnine Tremors,Semirhythmic Tremor,Semirhythmic Tremors,Senile Tremors,Static Tremors,Tremor, Action,Tremor, Coarse,Tremor, Continuous,Tremor, Darkness,Tremor, Fine,Tremor, Intention,Tremor, Intermittent,Tremor, Massive,Tremor, Passive,Tremor, Persistent,Tremor, Pill Rolling,Tremor, Rest,Tremor, Resting,Tremor, Saturnine,Tremor, Senile,Tremor, Static,Tremors

Related Publications

Yu-Qiong Niu, and Jin-Chen Yang, and Deborah A Hall, and Maureen A Leehey, and Flora Tassone, and John M Olichney, and Randi J Hagerman, and Lin Zhang
January 2004, Mental retardation and developmental disabilities research reviews,
Yu-Qiong Niu, and Jin-Chen Yang, and Deborah A Hall, and Maureen A Leehey, and Flora Tassone, and John M Olichney, and Randi J Hagerman, and Lin Zhang
January 2019, Methods in molecular biology (Clifton, N.J.),
Yu-Qiong Niu, and Jin-Chen Yang, and Deborah A Hall, and Maureen A Leehey, and Flora Tassone, and John M Olichney, and Randi J Hagerman, and Lin Zhang
May 2007, Neurologia (Barcelona, Spain),
Yu-Qiong Niu, and Jin-Chen Yang, and Deborah A Hall, and Maureen A Leehey, and Flora Tassone, and John M Olichney, and Randi J Hagerman, and Lin Zhang
October 2010, Arquivos de neuro-psiquiatria,
Yu-Qiong Niu, and Jin-Chen Yang, and Deborah A Hall, and Maureen A Leehey, and Flora Tassone, and John M Olichney, and Randi J Hagerman, and Lin Zhang
March 2010, Movement disorders : official journal of the Movement Disorder Society,
Yu-Qiong Niu, and Jin-Chen Yang, and Deborah A Hall, and Maureen A Leehey, and Flora Tassone, and John M Olichney, and Randi J Hagerman, and Lin Zhang
January 2006, Brain : a journal of neurology,
Yu-Qiong Niu, and Jin-Chen Yang, and Deborah A Hall, and Maureen A Leehey, and Flora Tassone, and John M Olichney, and Randi J Hagerman, and Lin Zhang
March 2013, Clinical genetics,
Yu-Qiong Niu, and Jin-Chen Yang, and Deborah A Hall, and Maureen A Leehey, and Flora Tassone, and John M Olichney, and Randi J Hagerman, and Lin Zhang
August 2023, Cells,
Yu-Qiong Niu, and Jin-Chen Yang, and Deborah A Hall, and Maureen A Leehey, and Flora Tassone, and John M Olichney, and Randi J Hagerman, and Lin Zhang
July 2013, Acta neuropathologica,
Yu-Qiong Niu, and Jin-Chen Yang, and Deborah A Hall, and Maureen A Leehey, and Flora Tassone, and John M Olichney, and Randi J Hagerman, and Lin Zhang
August 2019, Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia,
Copied contents to your clipboard!