Cargando…

Progressive Ataxia and Palatal Tremor: Think about POLG Mutations

BACKGROUND: Progressive ataxia and palatal tremor (PAPT) can be observed in both acquired brainstem or cerebellar lesions and genetic disorders. PHENOMENOLOGY SHOWN: PAPT due to mutation in POLG, the gene encoding the mitochondrial DNA polymerase. EDUCATIONAL VALUE: POLG mutation should be considere...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mongin, Marie, Delorme, Cécile, Lenglet, Timothée, Jardel, Claude, Vignal, Catherine, Roze, Emmanuel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Columbia University Libraries/Information Services 2016
Materias:	Video Abstracts
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862008/ https://www.ncbi.nlm.nih.gov/pubmed/27351300 http://dx.doi.org/10.7916/D86M36RK

Ejemplares similares

Tremor Associated with Chronic Inflammatory Demyelinating Polyneuropathy and Anti‐Neurofascin‐155 Antibodies
por: Bailly, Laurent, et al.
Publicado: (2018)

Spontaneous Intracranial Hypotension Associated with Kinetic Tremor and Ataxia
por: Salazar, Richard
Publicado: (2016)

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome
por: Giron, Camille, et al.
Publicado: (2018)

Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome
por: Mongin, Marie, et al.
Publicado: (2016)

A Treatable Rare Cause of Progressive Ataxia and Palatal Tremor
por: Rossi, Malco, et al.
Publicado: (2018)

Jaw Tremor Resulting in Broken Teeth: On the Essential Tremor Spectrum
por: Hernandez, Nora C., et al.
Publicado: (2015)

Re-Emergent Tremor of Parkinson’s Disease Masquerading as Essential Tremor
por: Morgan, Sarah, et al.
Publicado: (2016)

Hypermetabolism of Olivary Nuclei in a Patient with Progressive Ataxia and Palatal Tremor
por: Korpela, Jaana, et al.
Publicado: (2015)

Primary Writing Tremor
por: Vives‐Rodriguez, Ana, et al.
Publicado: (2018)

Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?
por: Verhoeven, Willem MA, et al.
Publicado: (2011)

Severe Essential Tremor: Illustrative Videos
por: Hale, Evan A., et al.
Publicado: (2019)

The Progression of Essential Tremors: Illustrative Videos
por: McGurn, Margaret, et al.
Publicado: (2021)

Dementia in Essential Tremor: A Visual Record
por: Zdrodowska, Maria Anna, et al.
Publicado: (2019)

Re-Emergent Kinetic Tremor in Parkinson’s Disease
por: Gupta, Harsh V.
Publicado: (2019)

Parkinsonism and Tremor in a Patient with Plasmodium vivax Malaria
por: Park, Jung E.
Publicado: (2017)

Jaw Clonus: A Rhythmic Oscillatory Movement, but Not Tremor
por: Williams, Laura, et al.
Publicado: (2020)

A Syndrome of Progressive Ataxia and Palatal Tremor (PAPT) in a Patient with Hypertrophic Olivary Degeneration
por: Ismail, Ismail Ibrahim, et al.
Publicado: (2020)

Palatal myoclonus secondary to neurosarcoidosis
por: Dharaiya, Devanshi, et al.
Publicado: (2020)

Improvement of Primary Writing Tremor in Parkinson’s Disease with Carbidopa/Levodopa
por: Battista, James P., et al.
Publicado: (2015)

Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias
por: Gan, Shi-Rui, et al.
Publicado: (2017)

A Case of Peripherally Induced Task-Specific “Lipstick Dystonic Tremor”
por: Cavallieri, Francesco, et al.
Publicado: (2019)

POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism
por: Van Maldergem, Lionel, et al.
Publicado: (2016)

Playlist of interviews about Gravitational Waves
por: INFN, instute
Publicado: (2018)

Tremor and ataxia in COVID-19()
por: Diezma-Martín, A.M., et al.
Publicado: (2020)

Reversible hand tremors, downbeat nystagmus, and an unsteady gait with nontoxic lithium level
por: Peng, Yen‐Yi
Publicado: (2019)

Possible modulation of the amplitude and frequency of resting parkinsonian tremor by touching the trapezius muscle
por: Hasegawa, Takafumi, et al.
Publicado: (2020)

Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia
por: Ng, Yi Shiau, et al.
Publicado: (2017)

Under-Recognition of Cervical Dystonia: An Essential Tremor Patient with Numerous Textbook Features of Cervical Dystonia
por: Hale, Evan A., et al.
Publicado: (2019)

Valproate Is Contraindicated in POLG1 Mutations
por: Finsterer, Josef
Publicado: (2019)

Electrophysiological Evidence for Functional (Psychogenic) Essential Palatal Tremor
por: Vial, Felipe, et al.
Publicado: (2020)

Ataxia Prevalence in Primary Orthostatic Tremor
por: Thompson, Rebecca, et al.
Publicado: (2020)

Facio-Oculo-Palatal Myoclonus Complicated by a Recurrent Brainstem Stroke
por: Pitakpatapee, Yuvadee, et al.
Publicado: (2019)

Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients
por: Guimarães, Thiago G., et al.
Publicado: (2022)

Simultaneous mixed phenotype and neuroimaging of progressive supranuclear palsy, progressive ataxia and palatal tremor: two different faces of tauopathies
por: Freitas, Leonardo Furtado, et al.
Publicado: (2022)

Clonazepam in the treatment of essential palatal tremors
por: Pandurangi, Aditya A., et al.
Publicado: (2012)

Lessons I have learned from my patients: everyday life with primary orthostatic tremor
por: Vidailhet, Marie, et al.
Publicado: (2017)

A Case of Fragile-X-Associated Tremor/Ataxia Syndrome Without Tremor
por: Lee, Woong-Woo, et al.
Publicado: (2023)

Vim thalamotomy in a patient with Holmes’ tremor and palatal tremor - Pathophysiological considerations
por: Maki, Futaba, et al.
Publicado: (2015)

Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation)
por: Rahmoune, H., et al.
Publicado: (2017)

Hypertrophic Olivary Degeneration and Palatal or Oculopalatal Tremor
por: Tilikete, Caroline, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_bvqb0fqtpogodm6ikhsdkhg3v6