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Prominent Oromandibular Dystonia and Pharyngeal Telangiectasia in Atypical Ataxia Telangiectasia

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Abstract

Ataxia telangiectasia (A-T) typically presents with early-onset progressive cerebellar ataxia, oculomotor apraxia and later, oculo-cutaneous telangiectasia. Extrapyramidal symptoms, apart from chorea, are rare. In this paper, we report a case of A-T with an atypically mild and slowly progressive disease course. Although by history there was mild gait clumsiness in early childhood, the leading problem was that of dystonia with onset at age 15, in the absence of gross gait imbalance or ocular motor apraxia. Dystonia was generalized and with prominent oromandibular involvement. Unusually, a leash of telangiectasia was present on the posterior pharyngeal wall, while other features frequently associated with A-T were absent.

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References

  1. Chun HH, Gatti RA (2004) Ataxia–telangiectasia, an evolving phenotype. DNA Repair (Amst) 3:1187–1196

    Article  CAS  Google Scholar 

  2. Woods CG, Taylor AM (1992) Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 82:169–179

    PubMed  CAS  Google Scholar 

  3. Sedgwick RP, Boder E (1991) Ataxia telangiectasia. In: Vinken PJBGKH (ed) Handbook of clinical neurology (hereditary neuropathies and spinocereballar atrophies), vol 60. Elsevier, Amsterdam, The Netherlands, pp 347–423

    Google Scholar 

  4. Taylor AM, Byrd PJ (2005) Molecular pathology of ataxia telangiectasia. J Clin Pathol 58:1009–1015

    Article  PubMed  CAS  Google Scholar 

  5. Perlman S, Becker-Catania S, Gatti RA (2003) Ataxia–telangiectasia: diagnosis and treatment. Semin Pediatr Neurol 10:173–182

    Article  PubMed  Google Scholar 

  6. Stray-Pedersen A, Borresen-Dale AL, Paus E et al (2007) Alpha fetoprotein is increasing with age in ataxia–telangiectasia. Eur J Paediatr Neurol 11:375–380

    Article  PubMed  CAS  Google Scholar 

  7. Stewart GS, Stankovic T, Byrd PJ et al (2007) RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. Proc Natl Acad Sci U S A 104:16910–16915

    Article  PubMed  CAS  Google Scholar 

  8. Taylor AMR, Metcalfe JA, Thick J et al (1996) Leukemia and lymphoma in ataxia telangiectasia. Blood 87:423–438

    PubMed  CAS  Google Scholar 

  9. Schneider SA, Aggarwal A, Bhatt M et al (2006) Severe tongue protrusion dystonia: clinical syndromes and possible treatment. Neurology 67:940–943

    Article  PubMed  CAS  Google Scholar 

  10. Aguilar MJ, Kamoshita S, Landing BH et al (1968) Pathological observations in ataxia–telangiectasia. A report of five cases. J Neuropathol Exp Neurol 27:659–676

    Article  PubMed  CAS  Google Scholar 

  11. Bodensteiner JB, Goldblum RM, Goldman AS (1980) Progressive dystonia masking ataxia in ataxia–telangiectasia. Arch Neurol 37:464–465

    PubMed  CAS  Google Scholar 

  12. Goyal V, Behari M (2002) Dystonia as presenting manifestation of ataxia telangiectasia: a case report. Neurol India 50:187–189

    PubMed  CAS  Google Scholar 

  13. Koepp M, Schelosky L, Cordes I et al (1994) Dystonia in ataxia telangiectasia: report of a case with putaminal lesions and decreased striatal [123I]iodobenzamide binding. Mov Disord 9:455–459

    Article  PubMed  CAS  Google Scholar 

  14. Stell R, Bronstein AM, Plant GT et al (1989) Ataxia telangiectasia: a reappraisal of the ocular motor features and their value in the diagnosis of atypical cases. Mov Disord 4:320–329

    Article  PubMed  CAS  Google Scholar 

  15. Uziel T, Savitsky K, Platzer M et al (1996) Genomic organization of the ATM gene. Genomics 33:317–320

    Article  PubMed  CAS  Google Scholar 

  16. Gatti RA, Berkel I, Boder E et al (1988) Localization of an ataxia–telangiectasia gene to chromosome 11q22-23. Nature 336:577–580

    Article  PubMed  CAS  Google Scholar 

  17. Gilad S, Chessa L, Khosravi R et al (1998) Genotype–phenotype relationships in ataxia–telangiectasia and variants. Am J Hum Genet 62:551–561

    Article  PubMed  CAS  Google Scholar 

  18. Concannon P, Gatti RA (1997) Diversity of ATM gene mutations detected in patients with ataxia–telangiectasia. Hum Mutat 10:100–107

    Article  PubMed  CAS  Google Scholar 

  19. Buzin CH, Gatti RA, Nguyen VQ et al (2003) Comprehensive scanning of the ATM gene with DOVAM-S. Hum Mutat 21:123–131

    Article  PubMed  CAS  Google Scholar 

  20. Gatti RA, Boder E, Vinters HV et al (1991) Ataxia–telangiectasia: an interdisciplinary approach to pathogenesis. Medicine (Baltimore) 70:99–117

    CAS  Google Scholar 

  21. Varon R, Vissinga C, Platzer M et al (1998) Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93:467–476

    Article  PubMed  CAS  Google Scholar 

  22. Carney JP, Maser RS, Olivares H et al (1998) The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell 93:477–486

    Article  PubMed  CAS  Google Scholar 

  23. Uhrhammer N, Bay JO, Bignon YJ (1998) Seventh international workshop on ataxia–telangiectasia. Cancer Res 58:3480–3485

    PubMed  CAS  Google Scholar 

  24. Stewart GS, Maser RS, Stankovic T et al (1999) The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia–telangiectasia-like disorder. Cell 99:577–587

    Article  PubMed  CAS  Google Scholar 

  25. Klein C, Wenning GK, Quinn NP et al (1996) Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov Disord 11:217–220

    Article  PubMed  CAS  Google Scholar 

  26. Hernandez D, McConville CM, Stacey M et al (1993) A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. J Med Genet 30:135–140

    Article  PubMed  CAS  Google Scholar 

  27. Perlman SL (2006) Ataxias. Clin Geriatr Med 22:859–77 vii

    Article  PubMed  Google Scholar 

  28. De Leon GA, Grover WD, Huff DS (1976) Neuropathologic changes in ataxia–telangiectasia. Neurology 26:947–951

    PubMed  Google Scholar 

  29. Terplan KL, Krauss RF (1969) Histopathologic brain changes in association with ataxia–telangiectasia. Neurology 19:446–454

    PubMed  CAS  Google Scholar 

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Acknowledgments

S.A.S. was supported by the Brain Research Trust, UK. AMRT thanks Cancer Research UK and VS the Ataxia Telangiectasia Society of UK for continued support. We also thank Dr Jim Last for technical advice and help.

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Authors and Affiliations

  1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, WC1N 3BG, UK

    Fatima Carrillo, Susanne A. Schneider & Kailash P. Bhatia

  2. Servicio de Neurología, HH UU Virgen del Rocio, Seville, Spain

    Fatima Carrillo

  3. The National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK

    Susanne A. Schneider, Raj Kapoor & Kailash P. Bhatia

  4. CR-UK Institute for Cancer Studies, The University of Birmingham, Vincent Drive, Edgbaston, Birmingham, B15 2TT, UK

    A. Malcolm R. Taylor & Venkataramanan Srinivasan

Authors
  1. Fatima Carrillo
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  2. Susanne A. Schneider
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  3. A. Malcolm R. Taylor
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  4. Venkataramanan Srinivasan
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  5. Raj Kapoor
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  6. Kailash P. Bhatia
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Corresponding author

Correspondence to Kailash P. Bhatia.

Additional information

Fatima Carrillo and Susanne A. Schneider contributed equally to the manuscript and should be considered as joint first authors.

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There is prominent craniocervical dystonia with torticollis to the right and oromandibular involvement with intermittent tongue protrusion which interferes with her speech. When keeping the arms outstretched, there is mild dystonia of the hands. There is no ataxia on the finger nose test. Her gait is narrow-based and there is no difficulty with tandem gait or standing on one foot. Oral examination demonstrates telangiectasia on the left posterior pharyngeal wall. Her eye movements are normal without oculomotor apraxia. (MPG 5.88 MB)

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Carrillo, F., Schneider, S.A., Taylor, A.M.R. et al. Prominent Oromandibular Dystonia and Pharyngeal Telangiectasia in Atypical Ataxia Telangiectasia. Cerebellum 8, 22–27 (2009). https://doi.org/10.1007/s12311-008-0055-7

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  • DOI: https://doi.org/10.1007/s12311-008-0055-7

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