Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present

Qiu, Jessica; Kumar, Kishore R.; Watson, Eloise; Ahmad, Kate; Sue, Carolyn M.; Hayes, Michael

doi:10.14802/jmd.20159

Cited by 8 publications

(3 citation statements)

References 10 publications

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“…Pain–pressure thresholds are halved in idiopathic cervical dystonia, with a diurnal increase in pain intensity that reaches a plateau in the evening [ 10 ]. Furthermore, alterations in descending modulation [ 11 ] and axonal sensory polyneuropathies [ 12 , 13 ] can occur. Botulinum toxin (BoNT)—used in the preventative treatment of chronic migraines as a novel monoclonal antibody directed towards the calcitonin gene-related peptide (CGRP) or its receptor [ 14 ]—can offer relief [ 15 ] from dystonia-related pain.…”

Section: Dystonia and Painmentioning

confidence: 99%

Transgenic Mice for the Translational Study of Neuropathic Pain and Dystonia

Scuteri

Hamamura

Watanabe

et al. 2022

IJMS

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Murine models are fundamental in the study of clinical conditions and the development of new drugs and treatments. Transgenic technology has started to offer advantages in oncology, encompassing all research fields related to the study of painful syndromes. Knockout mice or mice overexpressing genes encoding for proteins linked to pain development and maintenance can be produced and pain models can be applied to transgenic mice to model the most disabling neurological conditions. Due to the association of movement disorders with sensitivity and pain processing, our group focused for the first time on the role of the torsinA gene GAG deletion—responsible for DYT1 dystonia—in baseline sensitivity and neuropathic responses. The aim of the present report are to review the complex network that exists between the chaperonine-like protein torsinA and the baseline sensitivity pattern—which are fundamental in neuropathic pain—and to point at its possible role in neurodegenerative diseases.

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Section: Dystonia and Painmentioning

confidence: 99%

Transgenic Mice for the Translational Study of Neuropathic Pain and Dystonia

Scuteri

Hamamura

Watanabe

et al. 2022

IJMS

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“…Se ha propuesto que variantes en el gen POLG (15q26.1) estarían relacionadas con DRD (37). Este gen comprende 23 exones y 18.5 Kb, codifica la enzima ADN polimerasa subunidad gamma-1, implicada en la replicación mitocondrial(34).…”

Section: Rev Neuropsiquiatr 2022; 85(1): 38-54unclassified

Distonías primarias respondedoras a levodopa (DRD): búsqueda sistemática en Latinoamérica.

Zelada-Ríos¹,

Sarapura‐Castro²,

Solórzano-Palacios³

et al. 2022

Rev Neuropsiquiatr

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Las distonías que responden a levodopa (DRD, siglas en inglés) abarcan un grupo de distonías primarias, causadas por deficiencias enzimáticas en la vía metabólica de las aminas y, por definición, comparten como característica principal su respuesta favorable y sostenida a levodopa. Existen hasta seis genes asociados a DRD, siendo el gen GCH1 el más frecuentemente involucrado. La presentación típica de esta entidad se caracteriza por su aparición en la niñez, distonía de inicio en miembros inferiores con fluctuación diurna, leve parkinsonismo y respuesta clara a dosis bajas de levodopa. Se incluye una búsqueda sistemática de la literatura con casos de DRD publicados en Latinoamérica.

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“…Pain in dystonic patients is not only musculoskeletal, but an alteration of the descending modulation is involved [ 25 ]. Moreover, cases of axonal sensory polyneuropathies concurrent with dystonia have been described [ 26 , 27 ]. Botulinum toxin (BoNT) finds application to confer clinical improvement in dystonia due to reduced connectivity with [ 28 ] and also to relieve pain [ 29 ], as in migraine.…”

Section: Introductionmentioning

confidence: 99%

Exploitation of Thermal Sensitivity and Hyperalgesia in a Mouse Model of Dystonia

Scuteri

Rombolà

Natoli

et al. 2021

Life

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Neuropathic pain is characterized by mechanical allodynia and thermal hyperalgesia to heat, and it affects some 20% of European population. Patients suffering from several neurologic diseases experience neuropathic pain, often finding no relief in therapy. Transgenic mice expressing the gene encoding the human mutant (hMT) or the human wild-type (hWT) torsin A represent a preclinical model of DYT1 dystonia which is the most common form of early-onset inherited dystonia. Baseline thermal sensitivity and hyperalgesia to heat have never been studied in models of dystonia. Therefore, the aim of this research has been to characterize thermal sensitivity in baseline conditions and hyperalgesia to heat after the induction of neuropathic pain through the spinal nerve ligation (SNL) model in mice overexpressing human wild-type and mutated torsin A in comparison to non-transgenic C57BL/6 mice. According to our results, the paw withdrawal latency time to heat in the Hargreaves’ test is significantly lower in the hMT mice (Kruskal–Wallis test = 6.933; p = 0.0312*; hMT vs. hWT p = 0.0317*). On the other hand, no significant differences in SNL-induced thermal hyperalgesia was found among the three strains (Friedman test = 4.933; p = 0.1019). Future studies are needed to better understand the role of torsin A in sensory processing of heat stimuli.

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Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present

Cited by 8 publications

References 10 publications

Transgenic Mice for the Translational Study of Neuropathic Pain and Dystonia

Transgenic Mice for the Translational Study of Neuropathic Pain and Dystonia

Distonías primarias respondedoras a levodopa (DRD): búsqueda sistemática en Latinoamérica.

Exploitation of Thermal Sensitivity and Hyperalgesia in a Mouse Model of Dystonia

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