Late onset hexosaminidase A deficiency in a young adult

Peters, A; Markovic, Katrin; Schramm, Axel; Schwab, Stefan; Heuss, Dieter

doi:10.1111/j.1468-1331.2008.02170.x

Cited by 6 publications

(9 citation statements)

References 5 publications

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“…The rarer adult onset lysosomal storage diseases such as adult (Type 3) GM1 Gangliosidosis [19], Niemann –Pick (GM2 and GM 3 gangliosides) [20]; Fabrys disease [21] and the even more rare hexosaminidase A deficiency [22, 23] differ from HDLS both in clinical- and MRI presentations and neuropathologically.…”

Section: Discussionmentioning

confidence: 99%

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity

Sundal

Lash

Aasly

et al. 2012

Journal of the Neurological Sciences

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Hereditary diffuse leukoencephalopathy with spheroids (HDLS) was originally described in a large Swedish pedigree. Since then, 22 reports describing a total of 13 kindred's and 11 sporadic cases have been published. Inheritance is autosomal dominant, albeit the gene is unknown. Here we report on the clinical findings, genealogical data, brain MRI data, and autopsy/biopsy findings of four probands from three independently ascertained novel families from Norway, Germany and US. We identified a 39-year-old female and her twin sister, a 52-year-old male and a 47-year-old male with progressive neurological illness characterized by personality changes, cognitive decline and motor impairments, such as gait problems, bradykinesia, tremor and rigidity. Brain MRI showed white matter abnormalities with frontal prominence. Brain biopsy/autopsies were consistent with HDLS. HDLS is an under-recognized disease and in reporting these cases, we aim to increase the awareness of the disorder. Due to varied and wide phenotypic presentations, which may imitate several neurodegenerative diseases, HDLS can be difficult to diagnose. Definitive diagnosis can be established only by direct brain tissue examination. Familiarity with the clinical presentation and typical neuroimaging findings may be helpful in narrowing the diagnosis.

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Section: Discussionmentioning

confidence: 99%

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity

Sundal

Lash

Aasly

et al. 2012

Journal of the Neurological Sciences

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“…In the literature, 42 single case reports of LOTS presented a prominent motoneuronal phenotype [13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28] (Table 2). Similarly to our cases, the age of onset was mostly in the second decade, except for few exceptions [21,[23][24][25].…”

Section: Lots Phenotypes and Misdiagnosis Lots And Neuromuscular Diseasementioning

confidence: 99%

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

Riboldi

Lau

2022

Tremor and Other Hyperkinetic Movements

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Background: Late-Onset Tay-Sachs (LOTS) disease is a rare, progressive neurological condition that can dramatically affect the life of these patients. The diagnosis of LOTS is easily missed because of the multifaced presentation of these patients, who can initially be assessed by neuromuscular or movement disorder specialists, or psychiatrists. Clinical trials are now becoming available for LOTS. Therefore, early diagnosis can be detrimental for these patients and for insuring informative research outcomes. Methods:We characterized a cohort of nine patients with LOTS through a detailed clinical and video description. We then reviewed the available literature regarding the clinical description of patients with LOTS. Our findings were summarized based on the predominant phenotype of presentation to highlight diagnostic clues to guide the diagnosis of LOTS for different neurology specialists (neuromuscular, movement disorders) and psychiatrist. Results:We described a cohort of 9 new patients with LOTS seen at our clinic. Our literature review identified 76 patients mainly presenting with a neuromuscular, cerebellar, psychiatric, stuttering, or movement disorder phenotype. Diagnostic tips, such as the triceps sign, distinct speech patterns, early psychiatric presentation and impulsivity, as well as neurological symptoms (cerebellar or neuromuscular) in patients with a prominent psychiatric presentation, are described.Discussion: Specific diagnostics clues can help neurologists and psychiatrists in the early diagnosis of LOTS disease. Our work also represent the first video presentation of a cohort of patients with LOTS that can help different specialists to familiarize with these features and improve diagnostic outcomes. HighlightsLate-Onset Tay-Sachs (LOTS) disease, a severe progressive neurological condition, has multifaced presentations causing diagnostic delays that can significantly affect research outcomes now that clinical trials are available. We highlight useful diagnostic clues from our cohort (including the first video representation of a LOTS cohort) and comprehensive literature review.

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“…The differential diagnosis includes motor neuropathies and spinocerebellar ataxias. Neuroimaging has proven to be partly helpful in the diagnosis due to the frequent finding of profound cerebellar atrophy without other conspicuous abnormalities in LOTS [3][4][5][6][7][8][9][10][11][12][13][14]. Other unspecific abnormalities such as thinning of the corpus callosum or gyral atrophy were also reported in some cases [4].…”

Section: Introductionmentioning

confidence: 99%

Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease

et al. 2021

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Purpose Late-onset Tay-Sachs disease (LOTS) is a form of GM2 gangliosidosis, an autosomal recessive neurodegenerative disorder characterized by slowly progressive cerebellar ataxia, lower motor neuron disease, and psychiatric impairment due to mutations in the HEXA gene. The aim of our work was to identify the characteristic brain MRI findings in this presumably underdiagnosed disease. Methods Clinical data and MRI findings from 16 patients (10F/6 M) with LOTS from two centers were independently assessed by two readers and compared to 16 age-and sex-related controls. Results Lower motor neuron disease (94%), psychiatric symptoms-psychosis (31%), cognitive impairment (38%) and depression (25%)-and symptoms of cerebellar impairment including dysarthria (94%), ataxia (81%) and tremor (69%), were the most common clinical features. On MRI, pontocerebellar atrophy was a constant finding. Compared to controls, LOTS patients had smaller mean middle cerebellar peduncle diameter (p < 0.0001), mean superior cerebellar peduncle diameter (p = 0.0002), mesencephalon sagittal area (p = 0.0002), pons sagittal area (p < 0.0001), and larger 4 th ventricle transversal diameter (p < 0.0001). Mild corpus callosum thinning (37.5%), mild cortical atrophy (18.8%), and white matter T2 hyperintensities (12.5%) were also present. Conclusion Given the characteristic clinical course and MRI findings of the pontocerebellar atrophy, late-onset Tay-Sachs disease should be considered in the differential diagnosis of adult-onset cerebellar ataxias.

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Late onset hexosaminidase A deficiency in a young adult

Cited by 6 publications

References 5 publications

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity

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

Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease

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