Document Detail

Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age.
MedLine Citation:
PMID:  19898915     Owner:  NLM     Status:  MEDLINE    
Ataxia telangiectasia (AT) is a rare autosomal recessive disorder characterized by progressive ataxia, neurodegeneration, immunodeficiency, and cancer predisposition. Pathoanatomical studies reported a degeneration of cerebellar Purkinje cells as the striking feature of the disease. Although recent studies suggested the involvement of extracerebellar structures such as the brainstem and basal ganglia, this has rarely been studied in human AT. Thus, we performed a detailed cliniconeuroradiological investigation of 11 AT patients, aged 8 to 26 years by collecting clinical neurological data, ataxia scores, growth status, body mass index (BMI), growth hormone (GH), and insulin-like-growth factor 1 (IGF-1) and correlated them to extracerebellar neuroimaging findings in human AT. Neuroimaging was done by cranial and spine magnetic resonance imaging (MRI) with T1- and T2-weighted spin-echo and fluid attenuated inversion recovery sequences. We compared clinical and neuroradiological findings of six patients with IGF-1 levels and BMI below the third percentile to five patients with normal IGF-1 serum levels and BMI above the third percentile. Three of the six first mentioned patients older than 20 years and two patients older than 12 years showed noticeable high Klockgether ataxia scores above 25 points. Three of these patients presented with marked hyperintense lesions in the cerebral white matter of T2-weighted MR images. Interestingly, all six patients suffered from marked spinal atrophy. Two of the patients presented with severe extra-pyramidal symptoms, but only one patient showed associated MRI abnormalities of the basal ganglia. MRI in patients with normal IGF-1 levels showed the expected cerebellar lesions in four patients, whereas spinal atrophy was found only in two patients. There was no affection of the cerebral white matter or basal ganglia in this group. We conclude that central cerebral white matter affection, spinal atrophy, and extrapyramidal symptoms are more often present in patients with pronounced deficiency of the GH/IGF-1 axis accompanied by markedly reduced body weight and high ataxia scores. This may point to a major role of IGF-1 and nutritional status in neuroprotective signaling.
Matthias Kieslich; Franziska Hoche; Janine Reichenbach; Stefan Weidauer; Luciana Porto; Stefan Vlaho; Ralf Schubert; Stefan Zielen
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Cerebellum (London, England)     Volume:  9     ISSN:  1473-4230     ISO Abbreviation:  Cerebellum     Publication Date:  2010 Jun 
Date Detail:
Created Date:  2010-05-10     Completed Date:  2010-08-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101089443     Medline TA:  Cerebellum     Country:  United States    
Other Details:
Languages:  eng     Pagination:  190-7     Citation Subset:  IM    
Department of Pediatrics, Goethe University Frankfurt, Germany.
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MeSH Terms
Ataxia Telangiectasia / pathology*,  physiopathology*
Basal Ganglia / pathology
Body Mass Index
Body Weight / genetics,  physiology*
Cerebellum / pathology*
Disability Evaluation
Growth Hormone / deficiency*,  genetics
Insulin-Like Growth Factor I / deficiency*,  genetics
Magnetic Resonance Imaging / methods
Neurologic Examination
Spinal Cord / pathology
Young Adult
Reg. No./Substance:
67763-96-6/Insulin-Like Growth Factor I; 9002-72-6/Growth Hormone

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