Multimodality Evoked Potentials and EEG in a Case of Cherry Red Spot-Myoclonus Syndrome and Alpha-Neuraminidase Deficiency (Sialidosis Type 1)

Louboutin, Jean‐Pierre; Nogues, B; Caillaud, Catherine; Elie, B.

doi:10.1159/000117119

Cited by 6 publications

(3 citation statements)

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“…We demonstrated that brain MRI could remain normal in spite of the disease progressing for a duration as long as 18 years. The giant cortical SEPs and the jerk-locked activity revealed by the back-averaged EEG similar to the previous reports suggest a state of hyperexcitability of the sensorimotor cortex as the origin of the myoclonus in our cases [8][9][10]. The normal BAEPs and MEPs suggest a relatively intact brainstem auditory pathway and corticospinal tract even 15 years after the disease onset.…”

Section: Discussionsupporting

confidence: 90%

“…Enzyme assay and genetic analysis are necessary for confirmation of the diagnosis, especially in cases without cherry red spots. Abnormal electroencephalography (EEG) with diffuse paroxysmal features, time-related spikes in back average EEG, prolonged latencies and low amplitudes in visual evoked potential (VEP), and giant potentials in somatosen- sory evoked potential (SEP) studies have been shown in type 1 sialidosis [8][9][10], whereas studies for the long-term outcome of these electrophysiological abnormalities are limited. Characterizing the clinical and electrophysiological features and molecular genetics of the disease is helpful for elucidating pathogenesis, predicting disease prognosis and developing potential treatments.…”

Section: Introductionmentioning

confidence: 99%

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First report of two Taiwanese siblings with sialidosis type I: A 10-year follow-up study

Chen

Lai

Chen

et al. 2006

Journal of the Neurological Sciences

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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

First report of two Taiwanese siblings with sialidosis type I: A 10-year follow-up study

Chen

Lai

Chen

et al. 2006

Journal of the Neurological Sciences

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“…Neuraminidase deficiency together with excretion of sialyloligosaccharides in urine were subsequently demonstrated in few patients with similar features [11, 12, 13, 14, 15]. Since 1979, about 15 other confirmed patients have been described [16, 17, 18, 19, 20, 21, 22, 23, 24]. This syndrome is now generally referred to type I sialidosis.…”

Section: Discussionmentioning

confidence: 99%

Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study

et al. 2000

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We report biochemical, morphological and neuroradiological findings in a 40-year-old woman affected with type I sialidosis. The clinical symptoms, consisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red spot was first observed after 23 years of disease. A CT scan performed at 21 years of age showed enlargement of the fourth ventricle. Nuclear magnetic resonance imaging of the brain performed at the age of 40 showed severe atrophy of the cerebellum and pontine region; atrophy of cerebral hemispheres and of the corpus callosum was also observed. We emphasize the prolonged course of illness in this patient, observed over a long period of time. Of particular interest is the neuroradiological study showing our findings both at the beginning of the disease and after 20 years.

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Clinical and genetic characteristics of type I sialidosis patients in mainland China

Zhang

et al. 2020

Ann Clin Transl Neurol

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ObjectiveType I sialidosis (ST‐1) is a rare autosomal recessive inherited disorder. To date, there has been no study on ST‐1 patients in mainland China.MethodsWe reported in detail the cases of five Chinese ST‐1 patients from two centers, and summarized all worldwide cases. Then, we compared the differences between Chinese and foreign patients.ResultsA total of 77 genetically confirmed ST‐1 patients were identified: 12 from mainland China, 23 from Taiwan, 10 from other Asian regions, and 32 from European and American regions. The mean age of onset was 16.0 ± 6.7 years; the most common symptoms were myoclonus seizures (96.0%), followed by ataxia (94.3%), and blurred vision (67.2%). Compared to other groups, the onset age of patients from mainland China was much younger (10.8 ± 2.7 years). The incidence of visual impairment was lower in patients from other Asian regions than in patients from mainland China and Taiwan (28.6% vs. 81.8%–100%). Cherry‐red spots were less frequent in the Taiwanese patients than in patients from other regions (27.3% vs. 55.2%–90.0%). Furthermore, 48 different mutation types were identified. Chinese mainland and Taiwanese patients were more likely to carry the c.544A > G mutation (75% and 100%, respectively) than the patients from other regions (only 0%–10.0%). Approximately 50% of Chinese mainland patients carried the c.239C > T mutation, a much higher proportion than that found in the other populations. In addition, although the brain MRI of most patients was normal, 18F‐FDG‐PET analysis could reveal cerebellar and occipital lobe hypometabolism.InterpretationST‐1 patients in different regions are likely to have different mutation types; environmental factors may influence clinical manifestations. Larger studies enrolling more patients are required.

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Multimodality Evoked Potentials and EEG in a Case of Cherry Red Spot-Myoclonus Syndrome and Alpha-Neuraminidase Deficiency (Sialidosis Type 1)

Cited by 6 publications

References 0 publications

First report of two Taiwanese siblings with sialidosis type I: A 10-year follow-up study

First report of two Taiwanese siblings with sialidosis type I: A 10-year follow-up study

Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study

Clinical and genetic characteristics of type I sialidosis patients in mainland China

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