Clinical findings in Brazilian patients with adult GM1 gangliosidosis

Abstract

GM1 gangliosidosis is a lysosomal storage disorder caused by β‐galactosidase deficiency. To date, prospective studies for GM1 gangliosidosis are not available, and only a few have focused on the adult form. This retrospective cross‐sectional study focused on clinical findings in Brazilian patients with the adult form of GM1 gangliosidosis collected over 2 years. Ten subjects were included in the study. Eight were males and two females, with median age at diagnosis of 11.5 years (IQR, 4‐34 years). Short stature and weight below normal were seen in five out of the six patients with data available. Radiological findings revealed that the most frequent skeletal abnormalities were beaked vertebrae, followed by hip dysplasia, and platyspondyly. Neurological examination revealed that dystonia and swallowing problems were the most frequently reported. None of the patients presented hyperkinesia, truncal hypertonia, Parkinsonism, or spinal cord compression. Clinical evaluation revealed impairment in activities of cognitive/intellectual development and behavioral/psychiatric disorders in all nine subjects with data available. Language/speech impairment (dysarthria) was found in 8/9 patients, fine motor and gross motor impairments were reported in 7/9 and 5/9 patients, respectively. Impairment of cognition and daily life activities were seen in 7/9 individuals. Our findings failed to clearly identify typical early or late alterations presented in GM1 gangliosidosis patients, which confirms that it is a very heterogeneous condition with wide phenotypic variability. This should be taken into account in the evaluation of future therapies for this challenging condition.

Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype

“…We describe 17 individuals diagnosed with GLB1 deficiency presenting with various degrees and combinations of dysostosis multiplex and neurologic/neurocognitive dysfunction. Ten of the 17 patients (P1, 2,7,8,9,10,12, 15,16,17) were described previously in the context of clinical findings in adult GM1 gangliosidosis 9 …”

Natural history of GM1 gangliosidosis—Retrospective cohort study of 61 French patients from 1998 to 2019

“…Although cohort studies have been reported in other countries, [5][6][7][8] there has never been a large cohort study in France. Published reports provide descriptions of symptom prevalence but data on the age of symptom onset and disease progression are generally not reported.…”

Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies

“…The incidence of the disease in the European country of Malta is 1 case per 3700 live births 7 . In terms of race, Brazil has the highest frequency 8,9 and the disease has also been found in the Japanese, 10 Nigerian infantiles, 11 and Colombia 12 . A study by Georgiou et al found that the disease was also observed in Cypriot populations 13 .…”

“…Type III or adults occur from the early third year to the late thirties. In this variant, patients have abnormal and involuntary movements and the following symptoms are observed: dysarthria, Facial dystonia, Parkinsonian features, Ataxia, 24 Weak CNS involvement, Reduce skeletal changes, and so on 8,27,28 . In this case, the mortality varies from person to person.…”

“…In this variant, patients have abnormal and involuntary movements and the following symptoms are observed: dysarthria, Facial dystonia, Parkinsonian features, Ataxia, 24 Weak CNS involvement, Reduce skeletal changes, and so on. 8,27,28 In this case, the mortality varies from person to person. The highest reported incidence of this variant has been observed in Japan.…”