The Cerebellum

, 8:22 | Cite as

Prominent Oromandibular Dystonia and Pharyngeal Telangiectasia in Atypical Ataxia Telangiectasia

  • Fatima Carrillo
  • Susanne A. Schneider
  • A. Malcolm R. Taylor
  • Venkataramanan Srinivasan
  • Raj Kapoor
  • Kailash P. BhatiaEmail author


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.


Dystonia Ataxia telangiectasia Atypical presentation ATM protein Radiosensitivity Oromandibular/oro-bulbar 



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.

Supplementary material


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)


  1. 1.
    Chun HH, Gatti RA (2004) Ataxia–telangiectasia, an evolving phenotype. DNA Repair (Amst) 3:1187–1196CrossRefGoogle Scholar
  2. 2.
    Woods CG, Taylor AM (1992) Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 82:169–179PubMedGoogle Scholar
  3. 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 347–423Google Scholar
  4. 4.
    Taylor AM, Byrd PJ (2005) Molecular pathology of ataxia telangiectasia. J Clin Pathol 58:1009–1015PubMedCrossRefGoogle Scholar
  5. 5.
    Perlman S, Becker-Catania S, Gatti RA (2003) Ataxia–telangiectasia: diagnosis and treatment. Semin Pediatr Neurol 10:173–182PubMedCrossRefGoogle Scholar
  6. 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 11:375–380PubMedCrossRefGoogle Scholar
  7. 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 104:16910–16915PubMedCrossRefGoogle Scholar
  8. 8.
    Taylor AMR, Metcalfe JA, Thick J et al (1996) Leukemia and lymphoma in ataxia telangiectasia. Blood 87:423–438PubMedGoogle Scholar
  9. 9.
    Schneider SA, Aggarwal A, Bhatt M et al (2006) Severe tongue protrusion dystonia: clinical syndromes and possible treatment. Neurology 67:940–943PubMedCrossRefGoogle Scholar
  10. 10.
    Aguilar MJ, Kamoshita S, Landing BH et al (1968) Pathological observations in ataxia–telangiectasia. A report of five cases. J Neuropathol Exp Neurol 27:659–676PubMedCrossRefGoogle Scholar
  11. 11.
    Bodensteiner JB, Goldblum RM, Goldman AS (1980) Progressive dystonia masking ataxia in ataxia–telangiectasia. Arch Neurol 37:464–465PubMedGoogle Scholar
  12. 12.
    Goyal V, Behari M (2002) Dystonia as presenting manifestation of ataxia telangiectasia: a case report. Neurol India 50:187–189PubMedGoogle Scholar
  13. 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 9:455–459PubMedCrossRefGoogle Scholar
  14. 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 4:320–329PubMedCrossRefGoogle Scholar
  15. 15.
    Uziel T, Savitsky K, Platzer M et al (1996) Genomic organization of the ATM gene. Genomics 33:317–320PubMedCrossRefGoogle Scholar
  16. 16.
    Gatti RA, Berkel I, Boder E et al (1988) Localization of an ataxia–telangiectasia gene to chromosome 11q22-23. Nature 336:577–580PubMedCrossRefGoogle Scholar
  17. 17.
    Gilad S, Chessa L, Khosravi R et al (1998) Genotype–phenotype relationships in ataxia–telangiectasia and variants. Am J Hum Genet 62:551–561PubMedCrossRefGoogle Scholar
  18. 18.
    Concannon P, Gatti RA (1997) Diversity of ATM gene mutations detected in patients with ataxia–telangiectasia. Hum Mutat 10:100–107PubMedCrossRefGoogle Scholar
  19. 19.
    Buzin CH, Gatti RA, Nguyen VQ et al (2003) Comprehensive scanning of the ATM gene with DOVAM-S. Hum Mutat 21:123–131PubMedCrossRefGoogle Scholar
  20. 20.
    Gatti RA, Boder E, Vinters HV et al (1991) Ataxia–telangiectasia: an interdisciplinary approach to pathogenesis. Medicine (Baltimore) 70:99–117Google Scholar
  21. 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 93:467–476PubMedCrossRefGoogle Scholar
  22. 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 93:477–486PubMedCrossRefGoogle Scholar
  23. 23.
    Uhrhammer N, Bay JO, Bignon YJ (1998) Seventh international workshop on ataxia–telangiectasia. Cancer Res 58:3480–3485PubMedGoogle Scholar
  24. 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 99:577–587PubMedCrossRefGoogle Scholar
  25. 25.
    Klein C, Wenning GK, Quinn NP et al (1996) Ataxia without telangiectasia masquerading as benign hereditary chorea. Mov Disord 11:217–220PubMedCrossRefGoogle Scholar
  26. 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 30:135–140PubMedCrossRefGoogle Scholar
  27. 27.
    Perlman SL (2006) Ataxias. Clin Geriatr Med 22:859–77 viiPubMedCrossRefGoogle Scholar
  28. 28.
    De Leon GA, Grover WD, Huff DS (1976) Neuropathologic changes in ataxia–telangiectasia. Neurology 26:947–951PubMedGoogle Scholar
  29. 29.
    Terplan KL, Krauss RF (1969) Histopathologic brain changes in association with ataxia–telangiectasia. Neurology 19:446–454PubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Fatima Carrillo
    • 1
    • 2
  • Susanne A. Schneider
    • 1
    • 3
  • A. Malcolm R. Taylor
    • 4
  • Venkataramanan Srinivasan
    • 4
  • Raj Kapoor
    • 3
  • Kailash P. Bhatia
    • 1
    • 3
    Email author
  1. 1.Sobell Department of Motor Neuroscience and Movement Disorders, Institute of NeurologyUniversity College LondonLondonUK
  2. 2.Servicio de NeurologíaSevilleSpain
  3. 3.The National Hospital for Neurology and NeurosurgeryLondonUK
  4. 4.CR-UK Institute for Cancer StudiesThe University of BirminghamBirminghamUK

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