Progressive Supranuclear Gaze Palsy with Predominant Cerebellar Ataxia: A Case Series with Videos

Neurologic disorders caused by mutations in the ATP1A3 gene were originally reported as three distinct rare clinical syndromes: Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Opticus atrophy and Sensorineural hearing loss (CAPOS). In this case series, we describe 3 patients. A mother and her daughter showed an intermediate phenotype different from each other with the same heterozygous missense mutation (p.[R756C]), recently described in literature as Relapsing Encephalopathy With Cerebellar Ataxia (RECA). In addition, a third patient showed an intermediate AHC-RDP phenotype and had a likely pathogenic novel de novo missense mutation (p.[L100 V]). These patients support the growing evidence that AHC, RDP and RECA are part of a continuous ATP1A3 mutation spectrum that is still expanding. Three common features were a sudden onset, asymmetrical neurological symptoms, as well as the presence of triggering factors. When present, the authors argue to perform exome sequencing in an early stage.

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Erratum to “Effect of Long-Term Climbing Training on Cerebellar Ataxia: A Case Series”

Rehabilitation Research and Practice ◽

10.1155/2014/207137 ◽

2014 ◽

Vol 2014 ◽

pp. 1-1

Author(s):

Marianne Anke Stephan ◽

Sylvie Krattinger ◽

Jérôme Pasquier ◽

Shahid Bashir ◽

Thomas Fournier ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Case Series

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Clinical and immunological characteristics of the spectrum of GFAP autoimmunity: a case series of 22 patients

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp-2017-316583 ◽

2017 ◽

Vol 89 (2) ◽

pp. 138-146 ◽

Cited By ~ 43

Author(s):

Raffaele Iorio ◽

Valentina Damato ◽

Amelia Evoli ◽

Marco Gessi ◽

Simona Gaudino ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Cd8 T Cells ◽

Biopsy Specimen ◽

Case Series ◽

Catholic University ◽

Systemic Autoimmunity ◽

Neurological Presentation ◽

Mononuclear Infiltrate ◽

University Of Rome ◽

Glial Fibrillar Acidic Protein

ObjectiveTo report the clinical and immunological characteristics of 22 new patients with glial fibrillar acidic protein (GFAP) autoantibodies.MethodsFrom January 2012 to March 2017, we recruited 451 patients with suspected neurological autoimmune disease at the Catholic University of Rome. Patients’ serum and cerebrospinal fluid (CSF) samples were tested for neural autoantibodies by immunohistochemistry on mouse and rat brain sections, by cell-based assays (CBA) and immunoblot. GFAP autoantibodies were detected by immunohistochemistry and their specificity confirmed by CBA using cells expressing human GFAPα and GFAPδ proteins, by immunoblot and immunohistochemistry on GFAP-/- mouse brain sections.ResultsSerum and/or CSF IgG of 22/451 (5%) patients bound to human GFAP, of which 22/22 bound to GFAPα, 14/22 to both GFAPα and GFAPδ and none to the GFAPδ isoform only. The neurological presentation was: meningoencephalomyelitis or encephalitis in 10, movement disorder (choreoathetosis or myoclonus) in 3, anti-epileptic drugs (AED)-resistant epilepsy in 3, cerebellar ataxia in 3, myelitis in 2, optic neuritis in 1 patient. Coexisting neural autoantibodies were detected in five patients. Six patients had other autoimmune diseases. Tumours were found in 3/22 patients (breast carcinoma, 1; ovarian carcinoma, 1; thymoma, 1). Nineteen patients were treated with immunotherapy and 16 patients (84%) improved. Histopathology analysis of the leptomeningeal biopsy specimen from one patient revealed a mononuclear infiltrate with macrophages and CD8+ T cells.ConclusionsGFAP autoimmunity is not rare. The clinical spectrum encompasses meningoencephalitis, myelitis, movement disorders, epilepsy and cerebellar ataxia. Coexisting neurological and systemic autoimmunity are relatively common. Immunotherapy is beneficial in most cases.

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Recognition and management of rapid-onset gluten ataxias: case series

Cerebellum & Ataxias ◽

10.1186/s40673-021-00139-z ◽

2021 ◽

Vol 8 (1) ◽

Author(s):

Laurence Newrick ◽

Nigel Hoggard ◽

Marios Hadjivassiliou

Keyword(s):

Cerebellar Ataxia ◽

Case Series ◽

Rapid Onset ◽

Rapid Progression ◽

Gluten Sensitivity ◽

Gluten Ataxia ◽

Early Access ◽

Immune Mediated ◽

Cerebellar Ataxias ◽

Case Presentations

Abstract Background Most immune-mediated cerebellar ataxias, including those associated with gluten sensitivity (Gluten Ataxia), tend to present subacutely and usually progress gradually. Acute presentations with rapid progression outside the context of paraneoplastic cerebellar degeneration require prompt diagnosis and early access to disease-modifying immunotherapy in order to avert severe and permanent neurological disability. Case presentations We describe three cases of rapid-onset Gluten Ataxia, an immune-mediated cerebellar ataxia due to gluten sensitivity. We detail their presentation, clinical and neuroimaging findings, and our treatment strategy with immunotherapy. Conclusions Our cases highlight the potential for immune-mediated cerebellar ataxias to present acutely, with rapid-onset symptoms and devastating neurological consequences. We caution against the diagnosis of ‘post-infective cerebellitis’ in adults, and advocate early consideration of an immune-mediated cerebellar ataxia and initiation of immunotherapy to prevent irreversible cerebellar damage.

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Idiopathic very late-onset cerebellar ataxia: A Brazilian case series

Parkinsonism & Related Disorders ◽

10.1016/j.parkreldis.2015.10.348 ◽

2016 ◽

Vol 22 ◽

pp. e149

Author(s):

Helio Teive ◽

Adriana Moro ◽

Mariana Moscovich ◽

Walter Arruda ◽

Renato Munhoz

Keyword(s):

Cerebellar Ataxia ◽

Late Onset ◽

Case Series ◽

Brazilian Case

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Cerebellar Ataxia, Vertical Supranuclear Gaze Palsy, Sensorineural Deafness, Epilepsy, Dementia, and Hallucinations in an Adolescent Male

Seminars in Pediatric Neurology ◽

10.1016/j.spen.2014.04.012 ◽

2014 ◽

Vol 21 (2) ◽

pp. 106-108 ◽

Cited By ~ 4

Author(s):

Chang-Yong Tsao

Keyword(s):

Cerebellar Ataxia ◽

Sensorineural Deafness ◽

Adolescent Male ◽

Vertical Supranuclear Gaze Palsy ◽

Gaze Palsy

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Artery of Percheron Stroke as an Unusual Cause of Hypersomnia: A Case Series and a Short Literature Review

American Journal of Men s Health ◽

10.1177/1557988320938946 ◽

2020 ◽

Vol 14 (4) ◽

pp. 155798832093894

Author(s):

Imen Ben Saida ◽

Helmi Ben Saad ◽

Maroua Zghidi ◽

Emna Ennouri ◽

Radhouane Ettoumi ◽

...

Keyword(s):

Memory Impairment ◽

Case Series ◽

Sudden Onset ◽

Diagnostic Challenge ◽

Anatomical Variant ◽

Clinical Presentations ◽

Artery Of Percheron ◽

Delayed Complication ◽

Vertical Gaze ◽

Gaze Palsy

The thalamus and the mesencephalon have a complex blood supply. The artery of Percheron (AOP) is a rare anatomical variant. Occlusion of this artery may lead to bithalamic stroke with or without midbrain involvement. Given its broad spectrum of clinical features, AOP stroke is often misdiagnosed. Usually, it manifests with the triad of vertical gaze palsy, memory impairment, and coma. In this article, we report three cases of bilateral thalamic strokes whose clinical presentations were dominated by a sudden onset of hypersomnia. We also reviewed last 5 years’ publications related to the AOP strokes in males presenting sleepiness or equivalent terms as a delayed complication. The AOP stroke may present a diagnostic challenge for clinicians which should be considered in the differential diagnosis of hypersomnia.

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Effects of acetyl-dl-leucine in patients with cerebellar ataxia: a case series

Journal of Neurology ◽

10.1007/s00415-013-7016-x ◽

2013 ◽

Vol 260 (10) ◽

pp. 2556-2561 ◽

Cited By ~ 54

Author(s):

Michael Strupp ◽

Julian Teufel ◽

Maximilian Habs ◽

Regina Feuerecker ◽

Carolin Muth ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Case Series

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Effect of Long-Term Climbing Training on Cerebellar Ataxia: A Case Series

Rehabilitation Research and Practice ◽

10.1155/2011/525879 ◽

2011 ◽

Vol 2011 ◽

pp. 1-8 ◽

Cited By ~ 3

Author(s):

Stephan Marianne Anke ◽

Krattinger Sylvie ◽

Pasquier Jérôme ◽

Bashir Shahid ◽

Fournier Thomas ◽

...

Keyword(s):

Cerebellar Ataxia ◽

Therapeutic Potential ◽

Case Series ◽

Manual Dexterity ◽

Movement Speed ◽

Gait Ataxia ◽

Movement Velocity ◽

Limb Ataxia ◽

Pointing Movements

Background. Efficient therapy for both limb and gait ataxia is required. Climbing, a complex task for the whole motor system involving balance, body stabilization, and the simultaneous coordination of all 4 limbs, may have therapeutic potential.Objective. To investigate whether long-term climbing training improves motor function in patients with cerebellar ataxia.Methods. Four patients suffering from limb and gait ataxia underwent a 6-week climbing training. Its effect on ataxia was evaluated with validated clinical balance and manual dexterity tests and with a kinematic analysis of multijoint arm and leg pointing movements.Results. The patients increased their movement velocity and achieved a more symmetric movement speed profile in both arm and leg pointing movements. Furthermore, the 2 patients who suffered the most from gait ataxia improved their balance and 2 of the 4 patients improved manual dexterity.Conclusion. Climbing training has the potential to serve as a new rehabilitation method for patients with upper and lower limb ataxia.

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