Research Topics
Species | M A LeeheySummaryAffiliation: University of Colorado Health Sciences Center Country: USA Publications
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Detail Information
Publications
Progression of tremor and ataxia in male carriers of the FMR1 premutationMaureen A Leehey
Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, Colorado 80262, USA
Mov Disord 22:203-6. 2007..Preliminary data on life expectancy are variable, with a range from 5 to 25 years...- The fragile X premutation presenting as essential tremorMaureen A Leehey
Department of Neurology, University of Colorado Health Science Center, Denver, CO 80262, USA
Arch Neurol 60:117-21. 2003..Essential tremor is a frequent cause of tremor in elderly patients and in some cases is associated with impaired tandem gait and cognitive deficits... 
FMR1 CGG repeat length predicts motor dysfunction in premutation carriersM A Leehey
Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, CO 80262, USA
Neurology 70:1397-402. 2008..This study determines whether CGG repeat length correlates with severity and type of motor dysfunction in premutation carriers...- Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)D A Hall
University of Colorado Health Sciences Center, Denver, CO 80262, USA
Neurology 65:299-301. 2005..Data from this study and others were used to develop guidelines for FMR1 diagnostic testing for FXTAS... - Prevalence of FMR1 repeat expansions in movement disorders. A systematic reviewD A Hall
Department of Neurology, University of Colorado Health Sciences Center, Denver, CO 80262, USA
Neuroepidemiology 26:151-5. 2006..The heterogeneous design of the studies, inclusion criteria and mean age of subjects may have led to underestimation of FMR1 repeat expansion prevalence rates... - Bell's palsy in an older patient with uncontrolled hypertension due to medication nonadherenceS L Ellis
School of Pharmacy, Department of Pharmacy Practice, University of Colorado Health Sciences Center, Denver 80262, USA
Ann Pharmacother 33:1269-73. 1999..To describe and inform pharmacists of a rarely reported occurrence of facial palsy in an elderly patient with uncontrolled hypertension resulting from nonadherence to blood pressure medications... - Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndromeJim Grigsby
Department of Medicine, University of Colorado at Denver and Health Sciences Center, Aurora, CO 80045 5701, USA
Mov Disord 22:645-50. 2007.... - Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS)Jim Grigsby
Department of Medicine, University of Colorado Health Sciences Center, Aurora, CO 80045 5701, USA
Cogn Behav Neurol 19:165-71. 2006..This is the first case report of a comprehensive neuropsychologic examination of an older man with the fragile X-associated tremor-ataxia syndrome (FXTAS)... - Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS)Jim Grigsby
Department of Medicine, University of Colorado Health Sciences Center, Aurora, CO 80045, USA
J Neurol Sci 248:227-33. 2006..The results provide evidence that FXTAS involves marked impairment of executive cognitive abilities... 
Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndromeJim Grigsby
Department of Medicine, University of Colorado at Denver and Health Sciences Center, Aurora, CO 80045 5701, USA
Neuropsychology 22:48-60. 2008..Longitudinal research currently underway will provide insight into the progression of the disorder...- Symptomatic treatment in the fragile X-associated tremor/ataxia syndromeDeborah A Hall
Department of Neurology, University of Colorado Health Sciences Center at Denver, Denver, Colorado 80262, USA
Mov Disord 21:1741-4. 2006..This study suggests that patients with FXTAS can derive improvement from medication treatment for some of their symptoms... - Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson diseaseDeborah A Hall
Department of Neurology, University of Colorado at Denver and Health Sciences Center, Denver, CO, USA
Parkinsonism Relat Disord 15:156-9. 2009..Although screening all PD patients is likely to be low yield, genetic testing of FMR1 in individuals with PD and a family history of fragile X syndrome, autism or developmental delay, or other related FMR1 phenotypes is warranted... - Do patients with Parkinson's disease benefit from embryonic dopamine cell transplantation?Curt R Freed
Departments of Medicine, Neurology, Psychiatry, and Neurosurgery Box, University of Colorado School of Medicine, 4200 East Ninth Avenue, C237, Denver, CO 80220, USA
J Neurol 250:III44-6. 2003..Neurotransplantation should be tried earlier in the clinical course of Parkinson's to see if earlier intervention can prevent progression of the disease, particularly the dyskinetic responses seen after longterm L-dopa treatment... - PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementiaD A Hall
Department of Neurology, University of Colorado Health Sciences Center, Denver, CO 80262, USA
Neurology 64:1304-6. 2005..Mutations in PRNP may cause neuropsychiatric disorders that predate dementia by many years... - MS vs. HD: can white matter and subcortical gray matter pathology be distinguished neuropsychologically?Jose M Lafosse
Regis University, Department of Psychology and Neuroscience Program, Denver, CO 80221 1099, USA
J Clin Exp Neuropsychol 29:142-54. 2007..These results suggest that involvement of white and subcortical gray matter may produce different neuropsychological effects... - Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunctionJames A Brunberg
Department of Radiology, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA
AJNR Am J Neuroradiol 23:1757-66. 2002..Recognition of these alterations may support a specific diagnosis and may have implications for the potential occurrence of fragile X syndrome in the children of reproductive age female relatives... - Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndromeRandi J Hagerman
Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA
Am J Med Genet A 143:2256-60. 2007.... - Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelinesElizabeth Berry-Kravis
Department of Pediatrics, Rush University Medical Center, Chicago, Illinois 60612, USA
Mov Disord 22:2018-30, quiz 2140. 2007..We also provide guidelines for the practitioner to assist with identifying appropriate patients for DNA testing for FXTAS, as well as recommendations for genetic counseling once a diagnosis of FXTAS is made... - CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)Flora Tassone
Department of Biochemistry and Molecular Medicine, University of California, School of Medicine, Davis, California 95616, USA
Am J Med Genet B Neuropsychiatr Genet 144:566-9. 2007..001) and ataxia (P = 0.002), as well as overall onset (P < 0.0001). Our findings indicate that the CGG repeat number is a potential predictor of the age of onset of core motor features of FXTAS... - Fragile X syndrome vs fragile X-associated tremor/ataxia syndromeMaureen A Leehey
Arch Neurol 64:289; author reply 289-90. 2007 - Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier populationSebastien Jacquemont
MIND Institute, University of California Davis Medical Center, Sacramento, USA
JAMA 291:460-9. 2004..Additional documented symptoms include short-term memory loss, executive functional deficits, cognitive decline, parkinsonism, peripheral neuropathy, lower-limb proximal muscle weakness, and autonomic dysfunction... - Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1Sebastien Jacquemont
Service de Genetique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
Lancet Neurol 6:45-55. 2007..A similar mechanism is probably involved in premature ovarian failure, which affects up to 20% of female carriers of an altered FMR1 gene... - Neuropathic features in fragile X premutation carriersElizabeth Berry-Kravis
Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA
Am J Med Genet A 143:19-26. 2007..These data suggest that neuropathic signs are associated with the fragile X premutation, presumably occurring through the same mechanism proposed for CNS disease, namely, toxicity from expanded-CGG-repeat FMR1 mRNA... - Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutationDavid Hessl
Medical Investigation of Neurodevelopmental Disorders Institute, University of California Davis Medical Center, Sacramento, CA 95817, USA
Am J Med Genet B Neuropsychiatr Genet 139:115-21. 2005.... - Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementiaSusan Bacalman
M.I.N.D. Institute, and Departments of Psychiatry and Behavioral Sciences, UCDavis Medical Center, University of California-Davis, 2230 Stockton Boulevard, Sacramento, CA 95817, USA
J Clin Psychiatry 67:87-94. 2006..Clinicians encountering patients with clinical dementia with motor symptoms suggesting FXTAS should consider genetic testing to determine whether the patient's dementia syndrome is secondary to a fragile X premutation carrier status... - Size bias of fragile X premutation alleles in late-onset movement disordersSebastien Jacquemont
, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
J Med Genet 43:804-9. 2006....
Research Grants
- University of Colorado Parkinson's Disease Clinical Research ProgramMaureen Leehey; Fiscal Year: 2007..In summary, the PD clinical research team and clinical study program at the UCMDP is able to contribute significantly to the development and execution of the proposed NIH/NINDS PD Neuroprotection Trial. ..