Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

Renaud, Mathilde; Moreira, Maria-Céu; Monga, Ben; Rodriguez, Diana; Debs, Rabab; Charles, Perrine; Chaouch, Malika; Ferrat, Farida; Laurencin, Chloé; Vercueil, Laurent; Mallaret, Martial; Abderrahim, M’zahem; Pacha, Lamia Ali; Tazir, Mériem; Tilikete, Caroline; Ollagnon, Elisabeth; Ochsner, François; Küntzer, Thierry; Jung, Hans H.; Beis, Jean-Marie; Netter, J. C.; Djamshidian, Atbin; Bower, Mattew; Bottani, Armand; Walsh, Richard A.; Murphy, Sinéad M.; Reiley, Thomas; Bieth, Éric; Roelens, Filip; Poll-Thé, Bwee Tien; Lourenço, Charles Marques; Jardim, Laura Bannach; Straussberg, Rachel; Landrieu, P.; Roze, Emmanuel; Thobois, Stéphane; Pouget, Jean; Guissart, Claire; Goizet, Cyril; Dürr, Alexandra; Tranchant, Christine; Kœnig, M.; Anheim, Mathieu

doi:10.1001/jamaneurol.2017.4373

Cited by 30 publications

(35 citation statements)

References 32 publications

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“…Aprataxin is a nuclear protein that repairs single-strand DNA breaks [104,105]. Patients with AOA1 also may show hypercholesterolemia, hypoalbuminaemia, and deficiency of muscle coenzyme Q10 [106,107]. Most patients with AOA1 show saccade initiation difficulties.…”

Section: Ataxic Disordersmentioning

confidence: 99%

Abnormal Eye Movements in Parkinsonism and Movement Disorders

Jung

Kim²

2019

JMD

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Abnormal eye movements are commonly observed in movement disorders. Ocular motility examination should include bedside evaluation and laboratory recording of ocular misalignment, involuntary eye movements, including nystagmus and saccadic intrusions/oscillations, triggered nystagmus, saccades, smooth pursuit (SP), and the vestibulo-ocular reflex. Patients with Parkinson’s disease (PD) mostly show hypometric saccades, especially for the self-paced saccades, and impaired SP. Early vertical saccadic palsy is characteristic of progressive supranuclear palsy-Richardson’s syndrome. Patients with cortico-basal syndrome typically show a delayed onset of saccades. Downbeat and gaze-evoked nystagmus and hypermetric saccades are characteristic ocular motor findings in ataxic disorders due to cerebellar dysfunction. In this review, we discuss various ocular motor findings in movement disorders, including PD and related disorders, ataxic syndromes, and hyperkinetic movement disorders. Systemic evaluation of the ocular motor functions may provide valuable information for early detection and monitoring of movement disorders, despite an overlap in the abnormal eye movements among different movement disorders.

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Section: Ataxic Disordersmentioning

confidence: 99%

Abnormal Eye Movements in Parkinsonism and Movement Disorders

Jung

Kim²

2019

JMD

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“…It can affect the face, laryngo-pharynx and limbs. Dystonia is present between 25 to 50% of patients after the disease onset or several years later [7]. In our patient, it was very difficult to differentiate between myoclonus or dystonic jerks.…”

Section: Case Reportmentioning

confidence: 53%

Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome

Pedroso

Vale

Costa

et al. 2020

Tremor and Other Hyperkinetic Movements

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Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. Case Report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological examination revealed profound areflexia, chorea, generalized dystonia and oculomotor apraxia. Brain MRI revealed mild cerebellar atrophy and needle EMG showed axonal sensorimotor neuropathy. Whole exome sequencing revealed a mutation in the aprataxin gene. Discussion: AOA1 can present with choreoathetosis mixed with dystonic features, resembling ataxia-telangiectasia. This case is instructive since mixed and complex movement disorders is not very common in AOA1. Highlights: • Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by early-onset ataxia and oculomotor apraxia caused by variants in the APTX gene. • Ataxia is usually not the sole movement abnormality in AOA1. • Hyperkinetic movement disorders, especially chorea and dystonia, may occur. • Mixed and complex movement disorders is not very common in AOA1. • Patients with early-onset ataxia associated with mixed movement disorders should also be investigated for AOA1.

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“…Almost all patients with AOA2 and AT have increased AFP serum levels over the course of the disease, higher in fact than in patients with AOA1, whose AFP levels remain above controls. 25 Mariani et al 28 have reported that application of discriminatory thresholds of AFP could be helpful in distinguishing AOA1, AOA2, and AT with high specificity and predictive values. The levels include: AT: AFP > 65 μg/L; AOA2: 15 μg/ L < AFP < 65 μg/L; AOA4: 10 μg/L < AFP < 30 μg/L; AOA1 and ARCA3: 5 μg < AFP <20 μg/L ( Table 2).…”

Section: Aoa1 Aptx Gene (Omim: 208920)mentioning

confidence: 99%

Autosomal Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker

et al. 2020

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alpha‐Fetoprotein (AFP) is a biomarker of several autosomal recessive cerebellar ataxias (ARCAs), especially ataxia telangiectasia (AT) and ataxia with oculomotor apraxia (AOA) type 2 (AOA2). More recently, slightly elevated AFP has been reported in AOA1 and AOA4. Interestingly, AOA1, AOA2, AOA4, and AT are overlapping ARCAs characterized by oculomotor apraxia, with oculocephalic dissociation, choreo‐dystonia, and/or axonal sensorimotor neuropathy, in addition to cerebellar ataxia with cerebellar atrophy. The genetic backgrounds in these disorders play central roles in nuclear maintenance through DNA repair [ATM (AT), APTX (AOA1), or PNKP (AOA4)] or RNA termination [SETX (AOA2)]. Partially discriminating thresholds of AFP have been proposed as a way to distinguish between ARCAs with elevated AFP. In these entities, elevated AFP may be an epiphenomenon as a result of liver transcriptional dysregulation. AFP is a simple and reliable biomarker for the diagnosis of ARCA in performance and interpretation of next‐generation sequencing. Here, we evaluated clinical, laboratory, imaging, and molecular data of the group of ARCAs that share elevated AFP serum levels that have been described in the past two decades. © 2020 International Parkinson and Movement Disorder Society

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Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

Cited by 30 publications

References 32 publications

Abnormal Eye Movements in Parkinsonism and Movement Disorders

Abnormal Eye Movements in Parkinsonism and Movement Disorders

Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome

Autosomal Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker

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