title: Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder.
abstract: Ataxia-telangiectasia-like disorder (ATLD) due to mutations in the MRE11 gene is a very rare autosomal recessive disease, described so far in only 20 patients. Little is known about the onset of the first symptoms or the clinical course of the disease. The present report contributes to the diagnosis of ATLD and its prognosis at onset. We report 30 years of clinical and ophthalmic observations and the results of quantitative magnetic resonance (MR), MR spectroscopy (proton magnetic resonance spectroscopic imaging) and neuropsychological assessment in the first Italian siblings identified with ATLD. Although the disease had early onset and the clinical picture was initially severe, suggesting ataxia-telangiectasia, neurological impairment, ocular motor apraxia and neuropsychological tests showed very slow deterioration in adult age. The patients developed eye and head motor strategies to compensate ocular motor apraxia. MR measurements and MR spectroscopy disclosed widespread neuronal and axonal involvement. ATLD should be considered in patients with ocular apraxia and ataxia in infancy. The long follow-up provided insights into clinical outcome, with functional neuroimaging studies shedding light on the pathogenetic mechanisms of this rare disease.
authors: Silvia
authors: S
authors: Palmeri
authors: Alessandra
authors: A
authors: Rufa
authors: Barbara
authors: B
authors: Pucci
authors: Emiliano
authors: E
authors: Santarnecchi
authors: Alessandro
authors: A
authors: Malandrini
authors: Maria Laura
authors: ML
authors: Stromillo
authors: Marco
authors: M
authors: Mandalà
authors: Francesca
authors: F
authors: Rosini
authors: Nicola
authors: N
authors: De Stefano
authors: Antonio
authors: A
authors: Federico
mesh_terms: D000328:Adult; D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D035781:Siblings