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

Alessandra Scaravilli, Mario Tranfa, Giuseppe Pontillo, Bernard Brais, Giovanna De Michele, Roberta La Piana, Francesco Saccà, Filippo Maria Santorelli, Matthis Synofzik, Arturo Brunetti, Sirio Cocozza

Journal: Cerebellum (London, England) 2024;23(2):757-774

PMID: 37155088

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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.

Address: Department of Advanced Biomedical Sciences, University of Naples "Federico II", Via Pansini 5, 80131, Naples, Italy.; Department of Electrical Engineering and Information Technology (DIETI), University of Naples "Federico II", Naples, Italy.; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, Montreal, Canada.; Department of Neurosciences and Reproductive and Odontostomatological Sciences, University of Naples "Federico II", Naples, Italy.; Department of Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy.; German Center for Neurodegenerative Diseases (DZNE), Tubingen, Germany.; 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.; Department of Advanced Biomedical Sciences, University of Naples "Federico II", Via Pansini 5, 80131, Naples, Italy. [email protected].

DOI: 10.1007/s12311-023-01562-0

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https://dx.doi.org/10.1007/s12311-023-01562-0

MeSH Terms: Humans, Cerebellar Ataxia, Hypogonadism, Brain, Pituitary Gland, Magnetic Resonance Imaging