A Late Onset Ataxia With Telangiectasia

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

“…6,10,12,18,21 Our results and the previous literature also demonstrate that movement disorders are not the only gateway to the diagnosis of adult forms of A-T: diagnosis may also be evoked in front of nonspecific clinical signs and ocular motor abnormalities characterized by saccadic pursuit and dysmetric saccades with normal latency and velocity, or in cases of sensorimotor length-dependent axonal neuropathy, frequently with prominent distal motor involvement or even distal spinal muscular atrophy. 11 However, we showed, confirming scarce previous observations, 8,9,29 that AFP levels might be normal in early stages or even stay normal in some patients with A-T. Brain imaging may also be misleading as 2 patients did not have cerebellar atrophy, and one of them had T2 hyperintense white matter lesions.…”