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Deep neurological phenotyping in oculo-dento-digital syndrome
P Lopriore1,2, M Vista1, P Maritato1
1Unit of Neurology, San Luca Hospital, Lucca, Italy.
Summary
Neurological issues in Oculodentodigital dysplasia (ODDD) are often overlooked. This study identified specific neurological and imaging patterns in ODDD patients, highlighting the need for detailed phenotyping.
Area of Science:
- Genetics
- Neurology
- Rare Diseases
Background:
- Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant disorder with significant variability in how it affects individuals.
- Neurological symptoms are reported in about a third of ODDD cases, but comprehensive studies are lacking.
Purpose of the Study:
- To conduct in-depth neurological assessments of 10 patients within a single ODDD family.
- To identify characteristic neurological and neuroradiological features associated with ODDD.
Main Methods:
- Retrospective analysis of a three-generation family with a specific GJA1 gene mutation (c.416 T>C, p.(Ile139Thr)).
- Clinical and neuroradiological data were evaluated, including brain MRI and visual evoked potentials in subsets of patients.
Main Results:
- Central nervous system involvement was observed in 5 patients, primarily presenting as ataxia and/or spasticity.
- Sphincteric dysfunction (neurogenic bladder, fecal incontinence) was an early sign in most affected individuals.
- All patients showed subclinical optic pathway alterations, and neuroimaging revealed hypomyelination and superior cerebellar peduncle hyperintensities.
Conclusions:
- Neurological involvement in ODDD is frequently underestimated but exhibits distinct clinical and radiological patterns.
- Detailed neurological phenotyping is crucial for understanding ODDD's complexity and establishing genotype-phenotype correlations.
