Abstract Details

Title Neuro-Ophthalmological Findings in Two Italian Adult Siblings with Ataxia-Telangiectasia-Like Disorder

Topic Neuro-ophthalmology/Neuro-otology

Presentation(s) P06 - (-)

Poster/Presentation
Number 017

Objective

Background BACKGROUND: ATLD is a rare autosomal recessive multisystem disease caused by mutations in the MRE11 gene. Although the clinical phenotype is similar to ataxia-telangiectasia (AT), the clinical course is usually longer. Since few ATLD patients have been described, the clinical spectrum of the disease is still unclear.

Design/Methods DESIGN/METHODS: Demographic data and clinical history were collected. The patient underwent neurological and neuro-ophthalmological evaluations. Eye movements were recorded using a video-based two-dimensional eye tracking system. Reflexive and voluntary visually-guided saccade of 10[deg] and 18[deg] of eccentricity was tested. Quantitative analysis of saccade duration, amplitude, peak velocity, mean velocity, latency, gain, Q ratio and accuracy were performed for reflexive saccades. Error in direction was evaluated for voluntary saccades. Saccadic performances were compared with those of 25 control subjects. The main sequence relationships were assessed. Frequency, range of amplitude, range of intersaccadic interval and slow phase velocity of horizontal saccadic intrusions and nystagmus were considered.

Results RESULTS: The prominent neurological findings were ataxia, intentional tremor, and choreoathetosis, while neuro-ophthalmological examination showed saccadic dysmetria, gaze-evoked nystagmus, and large saccadic intrusions (mostly square wave jerks) in primary gaze position. Saccade dynamics showed increased saccade amplitude, velocity, gain, and inaccuracy than in healthy subjects.

Conclusions CONCLUSIONS: Although some findings reported here may also be observed in AT patients, particularly in a rare variant with slow progression and mild phenotype, some features seem typical of our ATLD patients.

Authors/Disclosures
Pamela Federighi (University of Siena) PRESENTER	No disclosure on file
	No disclosure on file
Francesca Rosini, MD (Neurological, Neurosurgical and Behavioural Sciences)	No disclosure on file
	No disclosure on file
Antonio Federico, MD, Prof (Dipartimento Medicina, Chirurgia E Neuroscienze)	No disclosure on file
Alessandra Rufa, MD, PhD (Neurosciences University of Siena)	No disclosure on file
Silvia Messina (AOU Policlinico Vittorio Emanuele)	No disclosure on file

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