Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity

Lopriore, Piervito; Ricciarini, Valentina; Siciliano, Gabriele; Mancuso, Michelangelo; Montano, Vincenzo

doi:10.3390/neurolint14020028

Cited by 15 publications

(9 citation statements)

References 99 publications

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“…Las ataxias sensitivas son una manifestación frecuente en las enfermedades provocadas por genes que influyen en el metabolismo mitocondrial, como las mutaciones en los genes FTX [ 12 ], PRDX3 [ 13 ], tRNALys y MT-ATP6 [ 14 ], incluyendo al gen POLG [ 15 ]. Las mutaciones en este último gen dan lugar a un amplio espectro de manifestaciones neurológicas, que abarcan desde la epilepsia hasta la ataxia, la oftalmoparesia y la miopatía.…”

Section: Discussionunclassified

Ataxia y neuropatía sensitiva de inicio en la edad adulta como manifestación clínica de mutaciones en el gen POLG

et al. 2023

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Introducción. La ataxia sensitiva es un síntoma frecuente en numerosas patologías neurológicas con causas múltiples y es una manifestación clínica frecuente en enfermedades relacionadas con genes que influyen en el metabolismo mitocondrial, como POLG . El objetivo del presente trabajo es describir las características diferenciales de cuatro pacientes con variantes patógenas en el gen POLG y expresión clínica común en forma de ataxia y neuropatía sensitiva de inicio en la edad adulta. Pacientes y métodos. Se realizó una revisión de las características clínicas de los pacientes portadores de variantes patógenas en el gen POLG de una consulta de enfermedades neuromusculares en un hospital de tercer nivel. Resultados. Se estudió a tres varones y una mujer de edad adulta (edad media: 40 años; 27-46) sin antecedentes familiares reseñables, con una duración de los síntomas de en torno a 10 años. El síntoma que motivó la consulta fue una alteración de la marcha en relación con ataxia sensitiva. Todos los pacientes presentaban anomalías oculomotoras. El estudio neurofisiológico evidenció una neuropatía sensitiva de predominio axonal. La resonancia magnética cerebral mostró atrofia y lesión de la sustancia blanca cerebelosa. La resonancia magnética muscular mostró sustitución grasa en músculos de muslos y gemelos sin un patrón específico. Todos ellos fueron portadores (homocigotos o heterocigotos compuestos) de variantes patógenas en el gen POLG . Conclusiones. El análisis molecular del gen POLG es una posibilidad diagnóstica prioritaria que se debe considerar en casos de ataxia sensitiva de inicio en la edad adulta, especialmente si se asocia a neuropatía sensitiva u oftalmoparesia.

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Section: Discussionunclassified

Ataxia y neuropatía sensitiva de inicio en la edad adulta como manifestación clínica de mutaciones en el gen POLG

et al. 2023

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“…Of note, an absence of family history should not exclude consideration of inherited disease, particularly given the relatively late onset of certain disorders such as multiple variants of CMT, most commonly MME (encoding the metalloprotease neprilysin) also known as ‘MME-related neuropathies’ [71]; SCA6 [72] 27B [65,73] and CANVAS [47,48,74]; and inheritance patterns which may lead to sparsely populated pedigrees and de novo mutations. Mitochondrial diseases such as Neuropathy, Ataxia and Retinitis Pigmentosa, and Maternally Inherited Leigh Syndrome should also be considered, and testing undertaken as is clinically appropriate [75 ▪▪ ].…”

Section: Genetic Testingmentioning

confidence: 99%

A patient with neuropathy and ataxia: what do I have to consider?

Roberts,

Szmulewicz

2023

Current Opinion in Neurology

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Purpose of review An increasing number of peripheral neuro(no)pathies are identified as involving other components of the neurological system, particularly those that further impair balance. Here we aim to outline an evidence-based approach to the diagnosis of patients who present with a somatosensory disorder which also involves at least one other area of neurological impairment such as the vestibular, auditory, or cerebellar systems. Recent findings Detailed objective investigation of patients who present with sensory impairment, particularly where the degree of imbalance is greater than would be expected, aids the accurate diagnosis of genetic, autoimmune, metabolic, and toxic neurological disease. Summary Diagnosis and management of complex somatosensory disorders benefit from investigation which extends beyond the presenting sensory impairment.

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“…Movement disorders in PMDs are not rare and, even when isolated, these should incite a search for PMD diagnosis. In particular, ataxia and parkinsonism represent the most common movement disorders [52]. Muscle and nerve cells have high energy needs and ATP derived from mitochondria represents their main source of energy [53].…”

Section: Movement Disordersmentioning

confidence: 99%

“…Indeed, neurological and muscular symptoms are common features of PMDs. Cerebellar ataxia, one of the most prevalent neurological mitochondrial signs [52], is characterized by movement incoordination or imbalance and leads to abnormal movement and gait, caused by dysfunction of the cerebellum or its connections [54]. Cerebellar ataxia is often associated with abnormal eye movements, dysmetria, kinetic tremor, dysarthria, and/or dysphagia, other symptoms of cerebellum dysfunction [10].…”

Section: Movement Disordersmentioning

confidence: 99%

Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?

Conti,

Di Martino,

Drago

et al. 2023

IJMS

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Primary mitochondrial diseases (PMDs) are complex group of metabolic disorders caused by genetically determined impairment of the mitochondrial oxidative phosphorylation (OXPHOS). The unique features of mitochondrial genetics and the pivotal role of mitochondria in cell biology explain the phenotypical heterogeneity of primary mitochondrial diseases and the resulting diagnostic challenges that follow. Some peculiar features (“red flags”) may indicate a primary mitochondrial disease, helping the physician to orient in this diagnostic maze. In this narrative review, we aimed to outline the features of the most common mitochondrial red flags offering a general overview on the topic that could help physicians to untangle mitochondrial medicine complexity.

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Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity

Cited by 15 publications

References 99 publications

Ataxia y neuropatía sensitiva de inicio en la edad adulta como manifestación clínica de mutaciones en el gen POLG

Ataxia y neuropatía sensitiva de inicio en la edad adulta como manifestación clínica de mutaciones en el gen POLG

A patient with neuropathy and ataxia: what do I have to consider?

Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?

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