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Hereditary cerebellar ataxias: descriptive study of a hospital cohort

OBJECTIFS The objective is to describe the epidemiological, clinical and etiological characteristics of hereditary cerebellar ataxias in children followed in our Child neurology department. METHODS Our study is descriptive and retrospective including 46 patients (26 girls, 20 boys) with hereditary cerebellar ataxia, followed in the child neurology department of Hédi Chaker hospital over a period of 11 years (2010 to 2021). All patients underwent clinical examination, cerebral imaging and neurophysiological exams. RESULTS The main symptom for consultation was a walking disorder in 50.2%, psychomotor retardation in 45.4% and tremor in 4.4%. The mean age at onset was 5.5 years. Ataxia was associated to others signs in almost all cases (99.8%). The associated signs are oculomotor apraxia in 8.7%, Babinski's sign in 26.1%, abolished reflexes in 10.9% of cases. Peripheral neuropathy was present in 16.3% of cases. The cerebral MRI is normal in 43.5% and shows a cerebellar atrophy in 56.5%. The phenotypic confirmation of a specific etiology was made in 19.1% (ataxia telangiectasia in 8.5% of cases, AVED in 6.4%, of friedreich's ataxia in 4.2%). The unclassified group represent 66%. An unfavorable evolution was found in 36.74% of patients and were significantly correlated with intellectual disability (p=0.021) found in 57.40% and spasticity (p=0.036) found in 29.8% of cases. Independent walking was only acquired in 53.85% of patients. The abnormalities found in 46.15% of cases. CONCLUSION In childhood cohort, ataxia was frequently associated to other neurological or extra-neurological symptoms. Classical etiologies such as Friedreich's ataxia, ataxia telangiectasia and AVED are rare.
Keywords: Ataxia - heriditary - Child

sihem Ben Nsir
Department of peditric neurology
Tunisia

Wafa Bouchaala
Department of peditric neurology
Tunisia

Olfa Jallouli
Department of peditric neurology
Tunisia

Salma Zouari
Department of peditric neurology
Tunisia

Fatma Kamoun
Department of peditric neurology
Tunisia

Chahnez Triki
Department of peditric neurology
Tunisia

 

 


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