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The natural course and complications of alpha-mannosidosis--a retrospective and descriptive study
Dag Malm1, Hilde Monica Frostad Riise Stensland, Øyvind Edvardsen
1Tromsø Centre of Internal Medicine (TIS as), 9008, Tromsø, Norway, dag.malm@online.no.
Insights
This study details alpha-mannosidosis progression in patients of all ages, providing crucial insights into disease characteristics and clinical features for better prognosis assessments.
Area of Science:
- Biochemistry
- Genetics
- Rare Diseases
Background:
- Alpha-mannosidosis is a rare lysosomal storage disorder with limited natural history data, primarily from pediatric cases.
- Previous understanding of alpha-mannosidosis progression was based on scarce observations, hindering comprehensive clinical assessment.
Purpose of the Study:
- To comprehensively assess the disease presentation and natural course of alpha-mannosidosis.
- To identify and characterize key clinical features across different age groups.
- To aid in the prognostic evaluation of alpha-mannosidosis.
Main Methods:
- A longitudinal study initiated in 1991, collecting data over 20 years.
- Patient recruitment via The International Society for Mannosidosis and Related Diseases (ISMRD).
- Data collection through physician-completed questionnaires covering clinical features in 125 patients (64% response rate), including 45 individuals aged 15+.
Main Results:
- Detailed assessment of facial dysmorphism, hearing impairment, mental and motor function, myopathy, arthritis, and bone disease.
- Characterization of clinical features in adult patients with alpha-mannosidosis.
- The study provides a detailed description of disease progression.
Conclusions:
- This extensive study offers a detailed view of alpha-mannosidosis progression and clinical characteristics.
- Findings can significantly aid in the prognostic assessment and clinical management of alpha-mannosidosis patients.
- The research highlights the importance of long-term data collection for understanding rare genetic disorders.
Abstract:
Most alpha-mannosidosis patients described have been children and information on the natural course of the disorder has been based on a very limited number of observations. In order to assess the disease presentation in detail and to study disease characteristics, a study was started in 1991 and has been ongoing for over 20 years. Patients with confirmed alpha-mannosidosis were recruited through The International Society for Mannosidosis and Related Diseases (ISMRD) where families affected with alpha-mannosidosis received a questionnaire on general clinical information to be filled out by the responsible physician. The questionnaire was returned by 125 patients (64%). Of these, 45 patients were 15 years old or older at the time of evaluation. The questionnaire allowed us to assess the following features: Facial dysmorphism, columnar disease, arthritis, myopathy, hearing impairment, mental impairment, psychosis, bone disease and motor function as well as general health. This study describes the progression of alpha-mannosidosis and may be helpful in determining the clinical characteristics for assessments of prognosis.
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