Olfactory dysfunction in fragile X tremor ataxia syndrome

Movement Disorders

Volumn 27, Issue 12, 2012, Pages 1556-1559

  Juncos, Jorge L ^a   Lazarus, Joash T ^a   Rohr, Julia ^a   Allen, Emily G ^a   Shubeck, Lisa ^a   Hamilton, Debra ^a   Novak, Gloria ^a   Sherman, Stephanie L ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Ataxia; Cognition; FMR1; FXTAS; Olfaction; Tremor

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

AGE DISTRIBUTION; AGED; ALZHEIMER DISEASE; ARTICLE; ATAXIA; CLINICAL ARTICLE; COGNITION; COGNITIVE DEFECT; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; FRAGILE X ASSOCIATED TREMOR ATAXIA SYNDROME; FRAGILE X SYNDROME; GENE MUTATION; HEAD INJURY; HUMAN; MALE; MONTREAL COGNITIVE ASSESSMENT TEST; MOTOR DYSFUNCTION; NAMED INVENTORIES, QUESTIONNAIRES AND RATING SCALES; NEUROLOGIC EXAMINATION; PARKINSON DISEASE; PARKINSONISM; PRIORITY JOURNAL; PROSPECTIVE STUDY; SMELLING DISORDER; SMOKING; STATISTICAL SIGNIFICANCE; TREMOR; UNIVERSITY OF PENNSYLVANIA SMELL IDENTIFICATION TEST;

AGED; ATAXIA; FRAGILE X SYNDROME; HUMANS; MALE; MIDDLE AGED; NEUROLOGIC EXAMINATION; OLFACTION DISORDERS; SEVERITY OF ILLNESS INDEX; TREMOR;

EID: 84867747165     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25043     Document Type: Article

References (31)

1. Leehey MA. Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med 2009; 57: 830-836.
2. Jacquemont S. Screening for FXTAS. Eur J Hum Genet 2005; 13: 2-3.
3. Berry-Kravis E, Goetz CG, Leehey MA, et al. Neuropathic features in fragile X premutation carriers. Am J Med Genet A 2007; 143: 19-26.
4. Abele M, Riet A, Hummel T, Klockgether T, Wullner U. Olfactory dysfunction in cerebellar ataxia and multiple system atrophy. J Neurol 2003; 250: 1453-1455.
5. Storey E, Billimoria P. Increased T2 signal in the middle cerebellar peduncles on MRI is not specific for fragile X premutation syndrome. J Clin Neurosci 2005; 12: 42-43.
6. Doty RL, Shaman P, Kimmelman CP, Dann MS. University of Pennsylvania Smell Identification Test: a rapid quantitative olfactory function test for the clinic. Laryngoscope 1984; 94: 176-178.
7. Doty RL, Deems DA, Stellar S. Olfactory dysfunction in parkinsonism: a general deficit unrelated to neurologic signs, disease stage, or disease duration. Neurology 1988; 38: 1237-1244.
8. Haehner A, Hummel T, Reichmann H. Olfactory dysfunction as a diagnostic marker for Parkinson's disease. Expert Rev 2009; 9: 1773-1779.
9. Kovacs T. Mechanisms of olfactory dysfunction in aging and neurodegenerative disorders. Ageing Res Rev 2004; 3: 215-232.
10. Mesholam RI, Moberg PJ, Mahr RN, Doty RL. Olfaction in neurodegenerative disease: a meta-analysis of olfactory functioning in Alzheimer's and Parkinson's diseases. Arch Neurol 1998; 55: 84-90.
11. Stern MB, Doty RL, Dotti M, et al. Olfactory function in Parkinson's disease subtypes. Neurology 1994; 44: 266-268.
12. Ponsen MM, Stoffers D, Booij J, van Eck-Smit BL, Wolters E, Berendse HW. Idiopathic hyposmia as a preclinical sign of Parkinson's disease. Ann Neurol 2004; 56: 173-181.
13. Fernandez-Ruiz J, Diaz R, Hall-Haro C, et al. Olfactory dysfunction in hereditary ataxia and basal ganglia disorders. Neuroreport 2003; 14: 1339-1341.
14. Eichenbaum H, Otto TA, Wible CG, Piper JM. Building a model of the hippocampus in olfaction and memory.Olfaction: A Model System for Computational Neuroscience. Cambridge, MA: MIT Press; 1991.
15. Chou KL, Bohnen NI. Performance on an Alzheimer-selective odor identification test in patients with Parkinson's disease and its relationship with cerebral dopamine transporter activity. Parkinsonism Relat Disord 2009; 15: 640-643.
16. Connelly T, Farmer JM, Lynch DR, Doty RL. Olfactory dysfunction in degenerative ataxias. J Neurol Neurosurg Psychiatry 2003; 74: 1435-1437.
17. Goldstein DS, Sewell L, Holmes C. Association of anosmia with autonomic failure in Parkinson disease. Neurology 2010; 74: 245-251.
18. Juncos JL, Lazarus JT, Allen EG, et al. New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS). Neurogenetics 2011; 12: 123-135.
19. van Swieten JC, Koudstaal PJ, Visser MC, Schouten HJ, J van Gijn J. Interobserver agreement for the assessment of handicap in stroke patients. Stroke 1988; 19: 604-607.
20. Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003; 72: 869-878.
21. Nasreddine ZS, Phillips NA, Bedirian V, et al. The Montreal Cognitive Assessment, MoCA: a brief screening tool for mild cognitive impairment. J Am Geriatr Soc 2005; 53: 695-699.
22. Frye RE, Schwartz BS, Doty RL. Dose-related effects of cigarette smoking on olfactory function. JAMA 1990; 263: 1233-1236.
23. Barrios FA, Gonzalez L, Favila R, et al. Olfaction and neurodegeneration in HD. Neuroreport 2007; 18: 73-76.
24. Doty RL. The olfactory system and its disorders. Semin Neurol 2009; 29: 74-81.
25. Kovacs T, Cairns NJ, Lantos PL. beta-amyloid deposition and neurofibrillary tangle formation in the olfactory bulb in ageing and Alzheimer's disease. Neuropathol Appl Neurobiol 1999; 25: 481-491.
26. Tsuboi Y, Wszolek ZK, Graff-Radford NR, Cookson N, Dickson DW. Tau pathology in the olfactory bulb correlates with Braak stage, Lewy body pathology, and apolipoprotein epsilon4. Neuropathol Appl Neurobiol 2003; 29: 503-510.
27. Christen-Zaech S, Kraftsik R, Pillevuit O, et al. Early olfactory involvement in Alzheimer's disease. Can J Neurol Sci 2003; 30: 20-25.
28. Eichenbaum H. Using olfaction to study memory. Ann N Y Acad Sci 1998; 855: 657-669.
29. Bohnen NI, Muller ML, Kotagal V, et al. Olfactory dysfunction, central cholinergic integrity, and cognitive impairment in Parkinson's disease. Brain 2010; 133: 1747-1754.
30. Devanand DP, Michaels-Marston KS, Liu X, et al. Olfactory deficits in patients with mild cognitive impairment predict Alzheimer's disease at follow-up. Am J Psychiatry 2000; 157: 1399-1405.
31. Dulay MF, Gesteland RC, Shear PK, Ritchey PN, Frank RA. Assessment of the influence of cognition and cognitive processing speed on three tests of olfaction. J Clin Exp Neuropsychol 2008; 30: 327-337.