Early presentation of gait impairment in Wolfram Syndrome

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Pickett, Kristen A ^a,b   Duncan, Ryan P ^a   Hoekel, James ^b   Marshall, Bess ^b   Hershey, Tamara ^b   Earhart, Gammon M ^a,b  

^a WASHINGTON UNIVERSITY   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Ataxia; Development; Gait; Wolfram Syndrome

Indexed keywords

ADULT; ARTICLE; BODY EQUILIBRIUM; BRAIN DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER PROGRAM; CONTROLLED STUDY; CORRELATIONAL STUDY; DISEASE COURSE; FEMALE; GAIT DISORDER; HUMAN; MALE; MOTOR DYSFUNCTION; PATIENT ASSESSMENT; PATIENT CARE; SPATIOTEMPORAL ANALYSIS; STANDING; VELOCITY; VISUAL ACUITY; WALKING SPEED; WOLFRAM SYNDROME;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; GAIT; HUMANS; MALE; WOLFRAM SYNDROME; YOUNG ADULT;

EID: 84870546052     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-92     Document Type: Article

References (36)

1. Diabetes mellitus and simple optic atrophy among siblings: Report of 4 cases. Wolfram D, Wagener H, Mayo Clin Proc 1938 13 715 718
2. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Barrett TG, Bundey SE, Macleod AF, Lancet 1995 346 8988 1458 63 10.1016/S0140-6736(95)92473-6 7490992
3. Neurologic features and genotype-phenotype correlation in Wolfram syndrome. Chaussenot A, et al. Ann Neurol 2011 69 3 501 8 10.1002/ana.22160 21446023
4. Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder, and other abnormalities (Wolfram syndrome). A review of 88 cases from the literature with personal observations on 3 new patients. Cremers CW, Wijdeveld PG, Pinckers AJ, Acta Paediatr Scand Suppl 1977 264 1 16 270276
5. Psychiatric disorders in 36 families with Wolfram syndrome. Swift RG, et al. Am J Psychiatry 1991 148 6 775 9 2035720
6. Juvenile onset diabetes mellitus, central diabetes insipidus and optic atrophy (Wolfram syndrome) - neurological findings and prognostic implications. Grosse Aldenhovel HB, Gallenkamp U, Sulemana CA, Neuropediatrics 1991 22 2 6 103
7. Urological manifestations of the Wolfram syndrome: observations in 14 patients. Tekgul S, et al. J Urol 1999 161 2 616 7 10.1016/S0022-5347(01)61982-7 9915470
8. Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome? Fraser FC, Gunn T, J Med Genet 1977 14 3 190 3 10.1136/jmg.14.3.190 881709 (Pubitemid 8115913)
9. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Strom TM, et al. Hum Mol Genet 1998 7 13 2021 8 10.1093/hmg/7.13.2021 9817917 (Pubitemid 28546409)
10. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Inoue H, et al. Nat Genet 1998 20 2 143 8 10.1038/2441 9771706 (Pubitemid 28455446)
11. WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Takeda K, et al. Hum Mol Genet 2001 10 5 477 84 10.1093/hmg/10.5.477 11181571 (Pubitemid 32181670)
12. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Amr S, et al. Am J Hum Genet 2007 81 4 673 83 10.1086/520961 17846994 (Pubitemid 47596537)
13. Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome. Pakdemirli E, et al. Australas Radiol 2005 49 2 189 91 10.1111/j.1440-1673.2005. 01420.x 15845065 (Pubitemid 40646322)
14. Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India. Ganie MA, et al. Diabet Med 2011 28 11 1337 42 10.1111/j.1464-5491.2011. 03377.x 21726277
15. Early Brain Vulnerability in Wolfram Syndrome. Hershey T, et al. PLoS One 2012 7 7 40604 10.1371/journal.pone.0040604 22792385
16. Pathophysiology of cerebellar ataxia. Diener HC, Dichgans J, Mov Disord 1992 7 2 95 109 10.1002/mds.870070202 1584245
17. Role of the cerebellum in the control and adaptation of gait in health and disease. Thach WT, Bastian AJ, Prog Brain Res 2004 143 353 66 14653179 (Pubitemid 37443009)
18. Mechanisms of cerebellar gait ataxia. Morton SM, Bastian AJ, Cerebellum 2007 6 1 79 86 10.1080/14734220601187741 17366269 (Pubitemid 46410663)
19. Cerebellar control of postural scaling and central set in stance. Horak FB, Diener HC, J Neurophysiol 1994 72 2 479 93 7983513 (Pubitemid 24273558)
20. Balance impairment in individuals with Wolfram syndrome. Pickett KA, et al. Gait Posture 2012 36 3 619 624 10.1016/j.gaitpost.2012.06.008 22771154
21. Wolfram syndrome. Viswanathan V, Medempudi S, Kadiri M, J Assoc Physicians India 2008 56 197 9 18697639
22. Optic atrophy in Wolfram (DIDMOAD) syndrome. Barrett TG, et al. Eye (Lond) 1997 11 Pt 6 882 8 (Pubitemid 28024962)
23. Development of independent locomotion in children with a severe visual impairment. Hallemans A, et al. Res Dev Disabil 2011 32 6 2069 74 10.1016/j.ridd.2011.08.017 21985990
24. Revised Neurological Examination for Subtle Signs (1985). Denckla MB, Psychopharmacol Bull 1985 21 4 773 800 4089106
25. Repeatability of temporospatial gait measures in children using the GAITRite electronic walkway. Thorpe DE, Dusing SC, Moore CG, Arch Phys Med Rehabil 2005 86 12 2342 6 10.1016/j.apmr.2005.07.301 16344033 (Pubitemid 41774611)
26. A normative sample of temporal and spatial gait parameters in children using the GAITRite electronic walkway. Dusing SC, Thorpe DE, Gait Posture 2007 25 1 135 9 10.1016/j.gaitpost.2006.06.003 16875823 (Pubitemid 44750670)
27. Voluntary changes in step width and step length during human walking affect dynamic margins of stability. McAndrew Young PM, Dingwell JB, Gait Posture 2012 36 2 24 219
28. Turning strategies in patients with cerebellar ataxia. Mari S, et al. Exp Brain Res 2012 222 1-2 65 75 22842923
29. The influence of gait speed on local dynamic stability of walking. England SA, Granata KP, Gait Posture 2007 25 2 172 8 10.1016/j.gaitpost.2006.03. 003 16621565 (Pubitemid 46043427)
30. Slower speeds in patients with diabetic neuropathy lead to improved local dynamic stability of continuous overground walking. Dingwell JB, et al. J Biomech 2000 33 10 1269 77 10.1016/S0021-9290(00)00092-0 10899337 (Pubitemid 30427323)
31. Understanding the contribution of binocular vision to the control of adaptive locomotion. Patla AE, et al. Exp Brain Res 2002 142 4 551 61 10.1007/s00221-001-0948-x 11845250 (Pubitemid 34169842)
32. Understanding the roles of vision in the control of human locomotion. Patla AE, Gait Posture 1997 5 1 54 69 10.1016/S0966-6362(96)01109-5 (Pubitemid 27129976)
33. Quantitative analysis of gait in the visually impaired. Nakamura T, Disabil Rehabil 1997 19 5 194 7 10.3109/09638289709166526 9184784 (Pubitemid 27246209)
34. Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists. Kumar S, Pediatr Diabetes 2010 11 1 28 37 10.1111/j.1399-5448. 2009.00518.x 20015125
35. The development of mature gait. Sutherland DH, et al. J Bone Joint Surg Am 1980 62 3 336 53 7364807 (Pubitemid 10094187)
36. Development of temporal and distance parameters of gait in normal children. Hillman SJ, et al. Gait Posture 2009 29 1 5 81