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

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Abstract

The association of cerebellar ataxia and hypogonadism occurs in a heterogeneous group of disorders, caused by different genetic mutations often associated with a recessive inheritance. In these patients, magnetic resonance imaging (MRI) plays a pivotal role in the diagnostic workflow, with a variable involvement of the cerebellar cortex, alone or in combination with other brain structures. Neuroimaging involvement of the pituitary gland is also variable. Here, we provide an overview of the main clinical and conventional brain and pituitary gland MRI imaging findings of the most common genetic mutations associated with the clinical phenotype of ataxia and hypogonadism, with the aim of helping neuroradiologists in the identification of these disorders.

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Authors and Affiliations

  1. Department of Advanced Biomedical Sciences, University of Naples “Federico II”, Via Pansini 5, 80131, Naples, Italy

    Alessandra Scaravilli, Mario Tranfa, Giuseppe Pontillo, Arturo Brunetti & Sirio Cocozza

  2. Department of Electrical Engineering and Information Technology (DIETI), University of Naples “Federico II”, Naples, Italy

    Giuseppe Pontillo

  3. Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, Montreal, Canada

    Bernard Brais & Roberta La Piana

  4. Department of Neurosciences and Reproductive and Odontostomatological Sciences, University of Naples “Federico II”, Naples, Italy

    Giovanna De Michele & Francesco Saccà

  5. Department of Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy

    Filippo Maria Santorelli

  6. German Center for Neurodegenerative Diseases (DZNE), Tubingen, Germany

    Matthis Synofzik

  7. Division Translational Genomics of Neurodegenerative Diseases, Center for Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Otfried-Müller-Strasse 27, 72076, Tubingen, Germany

    Matthis Synofzik

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Contributions

All authors contributed to the study conception and design. All authors read and approved the final manuscript. Alessandra Scaravilli: conceptualization; writing — original draft preparation; Mario Tranfa: writing — review and editing; Giuseppe Pontillo: writing — review and editing; Bernard Brais: writing — review and editing; Giovanna De Michele: writing — review and editing; Roberta La Piana: writing — review and editing; Francesco Saccà: writing — review and editing; Filippo Maria Santorelli: writing—review and editing; Matthis Synofzik: writing — review and editing; Arturo Brunetti: writing — review and editing; supervision; Sirio Cocozza: conceptualization; writing — review and editing; supervision.

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Scaravilli, A., Tranfa, M., Pontillo, G. et al. A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism. Cerebellum 23, 757–774 (2024). https://doi.org/10.1007/s12311-023-01562-0

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