Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease

Riboldi, Giulietta; Lau, Heather

doi:10.5334/tohm.726

Cited by 8 publications

(9 citation statements)

References 53 publications

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“…Accordingly, many LOTS patients retrospectively report being clumsy during childhood, long before they seek neurologic care. 41 The relatively weak association between the severity of ataxia and cerebellar atrophy reported previously 11,41 and also shown in our current study suggests that the occurrence of prominent ataxia in the disease course may be linked not only to progression of cerebellar degeneration but also to the loss of compensatory mechanisms or lesion of ascending spinocerebellar pathways.…”

Section: Discussionsupporting

confidence: 58%

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease

Májovská,

Nestrašil,

Ahmed

et al. 2023

J of Inher Metab Disea

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Cerebellar atrophy is a characteristic sign of late‐onset Tay‐Sachs disease (LOTS). Other structural neuroimaging abnormalities are inconsistently reported. Our study aimed to perform a detailed whole‐brain analysis and quantitatively characterize morphometric changes in LOTS patients. Fourteen patients (8 M/6F) with LOTS from three centers were included in this retrospective study. For morphometric brain analyses, we used deformation‐based morphometry, voxel‐based morphometry, surface‐based morphometry, and spatially unbiased cerebellar atlas template. The quantitative whole‐brain morphometric analysis confirmed the finding of profound pontocerebellar atrophy with most affected cerebellar lobules V and VI in LOTS patients. Additionally, the atrophy of structures mainly involved in motor control, including bilateral ventral and lateral thalamic nuclei, primary motor and sensory cortex, supplementary motor area, and white matter regions containing corticospinal tract, was present. The atrophy of the right amygdala, hippocampus, and regions of occipital, parietal and temporal white matter was also observed in LOTS patients in contrast with controls (p < 0.05, FWE corrected). Patients with dysarthria and those initially presenting with ataxia had more severe cerebellar atrophy. Our results show predominant impairment of cerebellar regions responsible for speech and hand motor function in LOTS patients. Widespread morphological changes of motor cortical and subcortical regions and tracts in white matter indicate abnormalities in central motor circuits likely coresponsible for impaired speech and motor function.

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Section: Discussionsupporting

confidence: 58%

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease

Májovská,

Nestrašil,

Ahmed

et al. 2023

J of Inher Metab Disea

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“…In order to strength this observation, we further reviewed the cases reported in the literature and that were included in our publication. As we reported in our manuscript, a positive family history of LOTS was present in 58.8% of subjects presenting with a mainly neuromuscular phenotype, 75% of subjects with a predominant cerebellar phenotype, 37.5% of subjects with prevalent psychiatric manifestation, and 83.3% of subjects with a predominant stuttering phenotype [1].…”

Section: Giulietta Maria Riboldi Heather Lausupporting

confidence: 67%

Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease

Riboldi

Lau

2023

Tremor and Other Hyperkinetic Movements

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“…Whilst some cases may present with a neuromuscular predominant phenotype, additional features such as tandem gait ataxia are typically seen on examination [3][4][5]. Cerebellar atrophy on MRI, which is almost always seen, was not a feature in this case series.…”

Section: Discussionmentioning

confidence: 58%

“…Previous phenotypic studies of LOTS describe cerebellar, extrapyramidal and neuropsychiatric features occurring in addition to neuromuscular weakness. Whilst some cases may present with a neuromuscular predominant phenotype, additional features such as tandem gait ataxia are typically seen on examination [3–5]. Cerebellar atrophy on MRI, which is almost always seen, was not a feature in this case series.…”

Section: Discussionmentioning

confidence: 81%

Late‐onset Tay−Sachs disease presenting with a neuromuscular phenotype—a case series

Fullam,

Togher,

Power

et al. 2023

Euro J of Neurology

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Background and purposeTay−Sachs disease is a rare and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in β‐hexosaminidase leads to accumulation of GM2 ganglioside resulting in neuronal swelling and degeneration. Typical onset is in infancy with developmental regression and early death. Late‐onset Tay−Sachs disease (LOTS) is extremely rare, especially in the non‐Ashkenazi Jewish population, and is characterized by a more indolent presentation typically encompassing features of cerebellar and anterior horn cell dysfunction in addition to extrapyramidal and neuropsychiatric symptoms.CasesA case series of four unrelated patients of non‐Ashkenazi Jewish origin with a predominantly, and in some cases pure, neuromuscular phenotype with evidence of a motor neuronopathy on electromyography is presented. Cerebellar atrophy, reported to be a ubiquitous feature in LOTS, was absent in all patients.ConclusionThis case series provides evidence to support a pure neuromuscular phenotype in LOTS, which should be considered in the differential diagnosis of anterior horn cell disorders.

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Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease

Cited by 8 publications

References 53 publications

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease

Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease

Late‐onset Tay−Sachs disease presenting with a neuromuscular phenotype—a case series

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