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The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia
- Source :
- Neurology, Neurology, American Academy of Neurology, 2014, 83 (12), pp.1087-1095. ⟨10.1212/WNL.0000000000000794⟩, Neurology, 2014, 83 (12), pp.1087-1095. ⟨10.1212/WNL.0000000000000794⟩, Scopus-Elsevier
- Publication Year :
- 2014
-
Abstract
- International audience; OBJECTIVE:To assess the clinical spectrum of ataxia-telangiectasia (A-T) in adults, with a focus on movement disorders.METHODS:A total of 14 consecutive adults with A-T were included at 2 tertiary adult movement disorders centers and compared to 53 typical patients with A-T. Clinical evaluation, neurophysiologic and video-oculographic recording, imaging, laboratory investigations, and ATM analysis were performed.RESULTS:In comparison with typical A-T cases, our patients demonstrated later mean age at onset (6.1 vs 2.5 years, p < 0.0001), later loss of walking ability (p = 0.003), and longer survival (p = 0.0039). The presenting feature was ataxia in 71% and dysarthria and dystonia in 14% each. All patients displayed movement disorders, among which dystonia and subcortical myoclonus were the most common (86%), followed by tremor (43%). Video-oculographic recordings revealed mostly dysmetric saccades and 46% of patients had normal latencies (i.e., no oculomotor apraxia) and velocities. The α-fetoprotein (AFP) level was normal in 7%, chromosomal instability was found in 29% (vs 100% of typical patients, p = 0.0006), and immunoglobulin deficiency was found in 29% (vs 69%, p = 0.057). All patients exhibited 2 ATM mutations, including at least 1 missense mutation in 79% of them (vs 36%, p = 0.0067).CONCLUSION:There is great variability of phenotype and severity in A-T, including a wide spectrum of movement disorders. Karyotype and repeated AFP level assessments should be performed in adults with unexplained movement disorders as valuable clues towards the diagnosis. In case of a compatible phenotype, A-T should be considered even if age at onset is late and progression is slow
- Subjects :
- Adult
Male
Myoclonus
medicine.medical_specialty
Pathology
Movement disorders
Ataxia
[SDV]Life Sciences [q-bio]
Mutation, Missense
Immunoglobulins
Ataxia Telangiectasia Mutated Proteins
Gastroenterology
Severity of Illness Index
Cohort Studies
03 medical and health sciences
Dysarthria
Ataxia Telangiectasia
Young Adult
0302 clinical medicine
Ocular Motility Disorders
Internal medicine
Chromosomal Instability
medicine
Missense mutation
Humans
Oculomotor apraxia
Age of Onset
Mobility Limitation
Eye Movement Measurements
030304 developmental biology
Dystonia
0303 health sciences
Movement Disorders
Genetic Pleiotropy
medicine.disease
3. Good health
Phenotype
Ataxia-telangiectasia
Disease Progression
Female
Neurology (clinical)
alpha-Fetoproteins
medicine.symptom
Psychology
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 1526632X and 00283878
- Volume :
- 83
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- Neurology
- Accession number :
- edsair.doi.dedup.....494c2f602ae10f65127ec0ec186108e3