: 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.
A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism / Scaravilli, Alessandra; Tranfa, Mario; Pontillo, Giuseppe; Brais, Bernard; De Michele, Giovanna; La Piana, Roberta; Saccà, Francesco; Santorelli, Filippo Maria; Synofzik, Matthis; Brunetti, Arturo; Cocozza, Sirio. - In: THE CEREBELLUM. - ISSN 1473-4230. - (2023). [10.1007/s12311-023-01562-0]
A Review of Brain and Pituitary Gland MRI Findings in Patients with Ataxia and Hypogonadism
Scaravilli, Alessandra;Tranfa, Mario;Pontillo, Giuseppe;De Michele, Giovanna;Saccà, Francesco;Brunetti, Arturo;Cocozza, Sirio
2023
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.