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Abstract
The aim of the present study was to describe the oro-dental anomalies of different autosomal recessive neurodegenerative disorders to add specific dignostic findings to the clinical picture of these disorders.
Also, to discuss the value of gingival biopsy as an easier diagnostic tool
for these disorders.
The study included fifteen patients presenting to the outpatient clinic of the Departments of the Clinical Genetics and oro-dental Genetics, National Research Centre, complaining of loss of acquired milestones, without history of trauma during a 2 years period.
All the patients underwent extensive clinical and neurophysiological investigations. Ophthalmologic examination, biochemical enzymatic assay and brain CT and/ or MRI were carried out for all the patients. Complete oral and paraoral examination was performed. In addition, Panoramic X-ray were done for recording the
changes in the teeth and jaws.
The gingival samples were taken from all the studied patients, prepared and examined using the T.E.M. in the National Research Centre.
Fifteen patients (9 males & 6 females) presented with loss of acquired milestones were included in the present study. All the 15 patients had normal values for amino acids, organic acids in serum and urine and serum lactate and pyruvate. In addition, enzymatic assay for the arylsulphatase enzyme, α and β subunits of the hexosaminidase enzyme and chitotriosidase enzyme revealed normal results. Echo cardiography was normal, which was performed for adult onset cases to exclude Fredreich’s ataxia. Sex ratio was 0.6 in the total group showing male
predominance. Mean maternal age at the birth of affected patient was 23.4 ±1.47 years and the mean paternal age was 32.30 ±2.32 years.
Consanguinity was documented in 9 patients (75%) and our sample included 2 sibships from consanguineous marriage with 0.0714 mean inbreeding coefficient.