Sign in to use this feature.

Years

Between: -

Subjects

remove_circle_outline
remove_circle_outline

Journals

remove_circle_outline

Article Types

Countries / Regions

Search Results (1)

Search Parameters:
Keywords = POLG1-related ataxia

Order results
Result details
Results per page
Select all
Export citation of selected articles as:
20 pages, 844 KiB  
Review
Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity
by Piervito Lopriore, Valentina Ricciarini, Gabriele Siciliano, Michelangelo Mancuso and Vincenzo Montano
Neurol. Int. 2022, 14(2), 337-356; https://doi.org/10.3390/neurolint14020028 - 2 Apr 2022
Cited by 19 | Viewed by 4814
Abstract
Ataxia is increasingly being recognized as a cardinal manifestation in primary mitochondrial diseases (PMDs) in both paediatric and adult patients. It can be caused by disruption of cerebellar nuclei or fibres, its connection with the brainstem, or spinal and peripheral lesions leading to [...] Read more.
Ataxia is increasingly being recognized as a cardinal manifestation in primary mitochondrial diseases (PMDs) in both paediatric and adult patients. It can be caused by disruption of cerebellar nuclei or fibres, its connection with the brainstem, or spinal and peripheral lesions leading to proprioceptive loss. Despite mitochondrial ataxias having no specific defining features, they should be included in hereditary ataxias differential diagnosis, given the high prevalence of PMDs. This review focuses on the clinical and neuropathological features and genetic background of PMDs in which ataxia is a prominent manifestation. Full article
(This article belongs to the Special Issue The Neurogenetics of Degenerative Disorders)
Show Figures

Figure 1

Back to TopTop