Conventional MRI findings in hereditary degenerative ataxias: a pictorial review

S Cocozza, G Pontillo, G De Michele, M Di Stasi… - Neuroradiology, 2021 - Springer
Purpose Cerebellar ataxias are a large and heterogeneous group of disorders. The
evaluation of brain parenchyma via MRI plays a central role in the diagnostic assessment of …

Main inherited neurodegenerative cerebellar ataxias, how to recognize them using magnetic resonance imaging?

D Heidelberg, S Ronsin, F Bonneville… - Journal of …, 2018 - Elsevier
Ataxia is a neurodegenerative disease resulting from brainstem, cerebellar, and/or
spinocerebellar tracts impairments. Symptoms onset could vary widely from childhood to late …

Quantifying iron deposition in the cerebellar subtype of multiple system atrophy and spinocerebellar ataxia type 6 by quantitative susceptibility mapping

A Sugiyama, N Sato, Y Kimura, H Fujii… - Journal of the …, 2019 - Elsevier
We used quantitative susceptibility mapping (QSM) to assess the brain iron deposition in 28
patients with the cerebellar subtype of multiple system atrophy (MSA-C), nine patients with …

[HTML][HTML] A new MRI marker of ataxia with oculomotor apraxia

S Ronsin, S Hannoun, S Thobois, P Petiot… - European Journal of …, 2019 - Elsevier
Purpose Evaluate the specificity and sensitivity of disappearance of susceptibility weighted
imaging (SWI) dentate nuclei (DN) hypointensity in oculomotor apraxia patients (AOA) …

Autosomal recessive cerebellar ataxias: a diagnostic classification approach according to ocular features

D Lopergolo, F Rosini, E Pretegiani… - Frontiers in Integrative …, 2024 - frontiersin.org
Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of
neurodegenerative disorders affecting primarily the cerebellum and/or its afferent tracts …

[HTML][HTML] Ataxia with oculomotor apraxia type 2

MC Moreira, M Koenig - 2018 - europepmc.org
Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset of ataxia between
age three and 30 years after initial normal development, axonal sensorimotor neuropathy …

CHARON: An Imaging-Based Diagnostic Algorithm to Navigate Through the Sea of Hereditary Degenerative Ataxias

A Scaravilli, M Tranfa, G Pontillo, B Brais, G De Michele… - The Cerebellum, 2024 - Springer
The complexity in diagnosing hereditary degenerative ataxias lies not only in their rarity, but
also in the variety of different genetic conditions that can determine sometimes similar and …

[HTML][HTML] Autoantibodies related to ataxia and other central nervous system manifestations of gluten enteropathy

T Velikova, G Vasilev, R Shumnalieva… - World Journal of …, 2024 - ncbi.nlm.nih.gov
Gluten ataxia and other central nervous system disorders could be linked to gluten
enteropathy and related autoantibodies. In this narrative review, we focus on the various …

A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism

A Scaravilli, M Tranfa, G Pontillo, B Brais, G De Michele… - The cerebellum, 2024 - Springer
The association of cerebellar ataxia and hypogonadism occurs in a heterogeneous group of
disorders, caused by different genetic mutations often associated with a recessive …

Heterozygous deletion in exon 6 of STEX gene causing ataxia with oculomotor apraxia type 2 (AOA-2) with ovarian failure

JS Kinkar, PZ Jameel, BL Kumawat… - BMJ Case Reports …, 2021 - casereports.bmj.com
Ataxia with oculomotor apraxia type 2 (AOA2), recently renamed as ATX-SETX, is an
autosomal recessive, progressive neurodegenerative disorder belonging to inherited …