MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

Mascalchi, Mario

doi:10.3390/tomography8010035

Tomography

2022

DOI: 10.3390/tomography8010035

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MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

Mario Mascalchi¹

Abstract: MRI shows the three archetypal patterns of CNS volume loss underlying progressive ataxias in vivo, namely spinal atrophy (SA), cortical cerebellar atrophy (CCA) and olivopontocerebellar atrophy (OPCA). The MRI-based CNS atrophy pattern was reviewed in 128 progressive ataxias. A CNS atrophy pattern was identified in 91 conditions: SA in Friedreich’s ataxia, CCA in 5 acquired and 72 (24 dominant, 47 recessive,1 X-linked) inherited ataxias, OPCA in Multi-System Atrophy and 12 (9 dominant, 2 recessive,1 X-linked) … Show more

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2024

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Cited by 3 publications

References 80 publications

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Adult-onset cerebello-brainstem-dominant form of X-linked adrenoleukodystrophy with auditory pathway involvement: A case report

Noda,

Okubo,

Shinde

et al. 2024

Tenri Med Bull

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Adult-onset cerebello-brainstem-dominant form of X-linked adrenoleukodystrophy with auditory pathway involvement: A case report

Noda,

Okubo,

Shinde

et al. 2024

Tenri Med Bull

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Mitochondrial Inherited Disorders and their Correlation with Neurodegenerative Diseases

Gushi,

Balis

2024

EMIDDT

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Abstract:: Mitochondria are essential organelles for the survival of a cell because they produce energy. The cells that need more mitochondria are neurons because they perform a variety of tasks that are necessary to support brain homeostasis. The build-up of abnormal proteins in neurons, as well as their interactions with mitochondrial proteins, or MAM proteins, cause serious health issues. As a result, mitochondrial functions, such as mitophagy, are impaired, resulting in the disorders described in this review. They are also due to mtDNA mutations, which alter the heritability of diseases. The topic of disease prevention, as well as the diagnosis, requires further explanation and exploration. Finally, there are treatments that are quite promising, but more detailed research is needed.

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A family case of hereditary olivopontocerebellar atrophy: features of diagnosis and course of the disease

Mishura,

Turchyna,

Heletiuk

2024

USMYJ

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OPCA is a heterogeneous group of degenerative ataxias, the common feature of which is the occurrence of changes in the lower olives of the medulla oblongata, nuclei and transverse fibers of the pons, and cerebellar cortex. OPCA is not explicitly considered in general epidemiological surveys on spinocerebellar syndromes. It was described that in Cantabria (Spain) the prevalence ratios of autosomal-dominant cerebellar ataxia (ADCA) and idiopathic late-onset cerebellar ataxia (ILOCA) were 1.2 and 2.2 cases per 100,000, respectively. Some 60% of patients included in these groups had a «cerebellar-plus» syndrome and their computed tomographic (CT) or magnetic resonance imaging (MRI) scans revealed cerebellar and brainstem atrophy, allowing a presumptive diagnosis of OPCA. According to these estimations, the prevalence ratio of OPCA is about 2 per 100,000 (Berciano, 1991). The clinical picture is characterized by significant inter- and intra-familial polymorphism. Symptoms of the disease start to appear, usually at the age of 30-40, in the form of a disorder of coordination and unsteadiness when walking quickly (later, with the progression of the disease, a typical ataxic gait starts to develop). At the same time, intentional tremor and dyscoordination of hands appear, and in some cases – an asynergy of facial muscles. Speech disorders manifest themselves quite early and have a severe cerebellar-dysarthric character. An important place in the diagnosis of OPCA belongs to neuroimaging methods — CT, and MRI (the presence of an atrophic process and the absence of focal changes in the brain parenchyma). One of the factors that confirms the diagnosis is the presence of a family history and the relentlessly progressive nature of the disease.

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MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

Cited by 3 publications

References 80 publications

Adult-onset cerebello-brainstem-dominant form of X-linked adrenoleukodystrophy with auditory pathway involvement: A case report

Adult-onset cerebello-brainstem-dominant form of X-linked adrenoleukodystrophy with auditory pathway involvement: A case report

Mitochondrial Inherited Disorders and their Correlation with Neurodegenerative Diseases

A family case of hereditary olivopontocerebellar atrophy: features of diagnosis and course of the disease

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