Ataxia telengiectasia

Ataxia telengiectasia


ATAXIA TELANGIECTASIA 

Genetic map:

  • Gene involved – ATM gene on chromosome 11 which encodes Atm protein kinase, a member of phosphatidyl   inositol 3-kinase family
  • only phacomatotic hereditary condition transmitted in the autosomal recessive mode, where combined immunodeficiency is associated with cerebellar ataxia, telangiectasia, ovarian dysgenesis & chromosomal abnormalities. 

Clinical and Histologic features:

  • Presents in the first decade of life with progressive telangiectatic lesions and ataxia & chorio-athetoid movements associated with deficits in cerebellar function and nystagmus
  • Truncal and limb ataxia, dysarthria, extensor plantar responses, myoclonic jerks, areflexia, distal sensory deficits
  • Thymic hypoplasia, premature aging, Type 1 DM
  •  ↑ incidence of recurrent pulmonary infections, lymphomas, Hodgkin’s disease, acute T cell leukemia, breast cancer
  •  Most striking neuropathologic changes: loss of Purkinje, granule and basket cells in the cerebellar cortex and neurons in the deep cerebellar nuclei

Complication:

 Death occurs due to sinopulmonary infection early in life , or malignancy in 2nd  or 3rd decade.

Immunological features :

  • May affect T&B cells
  • IgA, IgE and IgG2 deficiency.
  • T cell function is variably depressed.
  • CMI is also defective resulting in impairment of delayed hypersensitivity & graft rejection.  

Treatment : Transfer factor therapy & fetal thymus transplants.

 Exam Question

ATAXIA TELANGIECTASIA

  • Gene involved – ATM gene on chromosome 11 which encodes Atm protein kinase, a member of hosphatidyl   inositol 3-kinase family
  • only phacomatotic hereditary condition transmitted in the autosomal recessive mode, where combined immunodeficiency is associated with cerebellar ataxia, telangiectasia, ovarian dysgenesis & chromosomal abnormalities. 
  • Presents in the first decade of life with progressive telangiectatic lesions and ataxia & chorio-athetoid movements associated with deficits in cerebellar function and nystagmus
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