Study highlights movement disorders and neuroimaging in neurological CTX cases

The neurological manifestations of adult-onset cerebrotendinous xanthomatosis (CTX) are diverse and can significantly vary among patients, leading to delayed diagnoses, according to a poster presented at the 2024 International Congress of Parkinson’s Disease and Movement Disorders. Early genetic screening for CYP27A1 mutations is crucial when specific movement disorders and characteristic neuroimaging findings are observed.

The study included 9 individuals from 4 families, with an average age of 36 years. Genetic testing confirmed start-loss and missense mutations in the CYP27A1 gene, with diagnostic delays of 3-5 years due to variability in clinical presentation within and between families.

The patients exhibited a wide range of movement disorders, including parkinsonism (3 patients), kinetic tremor (2), oculomotor apraxia (1), and spastic paraplegia (4). Other symptoms included neuropsychiatric issues, axial dystonia, ataxia, bulbar weakness, and anarthria.

MRI findings showed characteristic symmetrical T2 hyperintense lesions in multiple brain regions, such as the periventricular white matter, internal capsule, globi pallidi, and cerebellar nuclei. In 4 cases, tendon xanthomas—typical in CTX—were absent clinically but identified via imaging.

Treatment with CDCA helped stabilize symptoms in some cases. Follow-up MRIs showed no significant changes in the disease progression.

The study underscores the importance of early genetic screening for CYP27A1 mutations when movement disorders and specific MRI patterns are present.

Reference
Alquaimi M, et al. Movement Disorders in Cerebrotendinous Xanthomatosis [abstract]. Mov Disord. 2024; 39 (suppl 1). https://www.mdsabstracts.org/abstract/movement-disorders-in-cerebrotendinous-xanthomatosis/. Accessed October 15, 2024.