The Experts below are selected from a list of 12 Experts worldwide ranked by ideXlab platform

Heinz Jungbluth - One of the best experts on this subject based on the ideXlab platform.

  • sil1 related marinesco Sjoegren Syndrome mss with associated movement disorder p2 244
    Neurology, 2015
    Co-Authors: Byrne Susan, Daniel E Lumsden, Nomazulu Dlamini, Heinz Jungbluth
    Abstract:

    Objective/Background: Marinesco-Sjoegren Syndrome(MSS) is a recessively inherited multisystem disorder due to mutations in SIL1 , encoding a nuclear exchange factor for the endoplasmic reticulum resident chaperone BiP. Precise pathogenic mechanisms are currently unknown but are likely to include autophagic, mitochondrial and nuclear envelope abnormalities. MSS is characterized by global developmental delay, cerebellar atrophy, ataxia, cataracts, and a myopathy with variable peripheral nerve involvement. Design/Methods: To present a case of MSS with associated movement disorder. Results: This 5-year-old girl presented at the age of 2-years with global developmental delay, hypotonia and weakness. She was the first child of a distantly related Chinese couple. Height, weight and head circumference were all below the 0.4th centile. The most striking features were profound facial hypomimia and marked generalized paucity of movement. There was also a degree of weakness, and mainly truncal ataxia. There was no tremor. She was not dysmorphic and had normal eye movements. She subsequently developed cataracts requiring surgical removal and learned to walk with support but remained profoundly bradykinetic. Investigations included a CK of 431 IU/l. CSF neurotransmitters were normal. MRI of the brain revealed cerebellar atrophy. Muscle biopsy featured increase in endomysial connective tissue, abnormal variability in fibre size and occasional fibres with basophilic stippling suggestive of vacuoles, positive for p62 on immunohistochemical stains. Genetic testing revealed a homozygous mutation in SIL1 , c.512_513delTT (p.Phe171Ter). Conclusions: We report the first case of MSS associated with a bradykinetic movement disorder. An association with movement disorders such as Parkinson’s Disease has been recently reported in other multisystem disorders with overlapping clinico-pathological features linked in similar molecular pathways, in particular LYST -related Chediak-Higashi Syndrome and EPG5 -related Vici Syndrome. Taken together, these findings suggest that aberrant neurodevelopment and neurodegeneration are different expressions of related defects in intracellular membrane trafficking and autophagy. Study Supported by: No funding obtained. Disclosure: Dr. Susan has nothing to disclose. Dr. Lumsden has nothing to disclose. Dr. Dlamini has nothing to disclose. Dr. Jungbluth has nothing to disclose.

Byrne Susan - One of the best experts on this subject based on the ideXlab platform.

  • sil1 related marinesco Sjoegren Syndrome mss with associated movement disorder p2 244
    Neurology, 2015
    Co-Authors: Byrne Susan, Daniel E Lumsden, Nomazulu Dlamini, Heinz Jungbluth
    Abstract:

    Objective/Background: Marinesco-Sjoegren Syndrome(MSS) is a recessively inherited multisystem disorder due to mutations in SIL1 , encoding a nuclear exchange factor for the endoplasmic reticulum resident chaperone BiP. Precise pathogenic mechanisms are currently unknown but are likely to include autophagic, mitochondrial and nuclear envelope abnormalities. MSS is characterized by global developmental delay, cerebellar atrophy, ataxia, cataracts, and a myopathy with variable peripheral nerve involvement. Design/Methods: To present a case of MSS with associated movement disorder. Results: This 5-year-old girl presented at the age of 2-years with global developmental delay, hypotonia and weakness. She was the first child of a distantly related Chinese couple. Height, weight and head circumference were all below the 0.4th centile. The most striking features were profound facial hypomimia and marked generalized paucity of movement. There was also a degree of weakness, and mainly truncal ataxia. There was no tremor. She was not dysmorphic and had normal eye movements. She subsequently developed cataracts requiring surgical removal and learned to walk with support but remained profoundly bradykinetic. Investigations included a CK of 431 IU/l. CSF neurotransmitters were normal. MRI of the brain revealed cerebellar atrophy. Muscle biopsy featured increase in endomysial connective tissue, abnormal variability in fibre size and occasional fibres with basophilic stippling suggestive of vacuoles, positive for p62 on immunohistochemical stains. Genetic testing revealed a homozygous mutation in SIL1 , c.512_513delTT (p.Phe171Ter). Conclusions: We report the first case of MSS associated with a bradykinetic movement disorder. An association with movement disorders such as Parkinson’s Disease has been recently reported in other multisystem disorders with overlapping clinico-pathological features linked in similar molecular pathways, in particular LYST -related Chediak-Higashi Syndrome and EPG5 -related Vici Syndrome. Taken together, these findings suggest that aberrant neurodevelopment and neurodegeneration are different expressions of related defects in intracellular membrane trafficking and autophagy. Study Supported by: No funding obtained. Disclosure: Dr. Susan has nothing to disclose. Dr. Lumsden has nothing to disclose. Dr. Dlamini has nothing to disclose. Dr. Jungbluth has nothing to disclose.

Daniel E Lumsden - One of the best experts on this subject based on the ideXlab platform.

  • sil1 related marinesco Sjoegren Syndrome mss with associated movement disorder p2 244
    Neurology, 2015
    Co-Authors: Byrne Susan, Daniel E Lumsden, Nomazulu Dlamini, Heinz Jungbluth
    Abstract:

    Objective/Background: Marinesco-Sjoegren Syndrome(MSS) is a recessively inherited multisystem disorder due to mutations in SIL1 , encoding a nuclear exchange factor for the endoplasmic reticulum resident chaperone BiP. Precise pathogenic mechanisms are currently unknown but are likely to include autophagic, mitochondrial and nuclear envelope abnormalities. MSS is characterized by global developmental delay, cerebellar atrophy, ataxia, cataracts, and a myopathy with variable peripheral nerve involvement. Design/Methods: To present a case of MSS with associated movement disorder. Results: This 5-year-old girl presented at the age of 2-years with global developmental delay, hypotonia and weakness. She was the first child of a distantly related Chinese couple. Height, weight and head circumference were all below the 0.4th centile. The most striking features were profound facial hypomimia and marked generalized paucity of movement. There was also a degree of weakness, and mainly truncal ataxia. There was no tremor. She was not dysmorphic and had normal eye movements. She subsequently developed cataracts requiring surgical removal and learned to walk with support but remained profoundly bradykinetic. Investigations included a CK of 431 IU/l. CSF neurotransmitters were normal. MRI of the brain revealed cerebellar atrophy. Muscle biopsy featured increase in endomysial connective tissue, abnormal variability in fibre size and occasional fibres with basophilic stippling suggestive of vacuoles, positive for p62 on immunohistochemical stains. Genetic testing revealed a homozygous mutation in SIL1 , c.512_513delTT (p.Phe171Ter). Conclusions: We report the first case of MSS associated with a bradykinetic movement disorder. An association with movement disorders such as Parkinson’s Disease has been recently reported in other multisystem disorders with overlapping clinico-pathological features linked in similar molecular pathways, in particular LYST -related Chediak-Higashi Syndrome and EPG5 -related Vici Syndrome. Taken together, these findings suggest that aberrant neurodevelopment and neurodegeneration are different expressions of related defects in intracellular membrane trafficking and autophagy. Study Supported by: No funding obtained. Disclosure: Dr. Susan has nothing to disclose. Dr. Lumsden has nothing to disclose. Dr. Dlamini has nothing to disclose. Dr. Jungbluth has nothing to disclose.

Nomazulu Dlamini - One of the best experts on this subject based on the ideXlab platform.

  • sil1 related marinesco Sjoegren Syndrome mss with associated movement disorder p2 244
    Neurology, 2015
    Co-Authors: Byrne Susan, Daniel E Lumsden, Nomazulu Dlamini, Heinz Jungbluth
    Abstract:

    Objective/Background: Marinesco-Sjoegren Syndrome(MSS) is a recessively inherited multisystem disorder due to mutations in SIL1 , encoding a nuclear exchange factor for the endoplasmic reticulum resident chaperone BiP. Precise pathogenic mechanisms are currently unknown but are likely to include autophagic, mitochondrial and nuclear envelope abnormalities. MSS is characterized by global developmental delay, cerebellar atrophy, ataxia, cataracts, and a myopathy with variable peripheral nerve involvement. Design/Methods: To present a case of MSS with associated movement disorder. Results: This 5-year-old girl presented at the age of 2-years with global developmental delay, hypotonia and weakness. She was the first child of a distantly related Chinese couple. Height, weight and head circumference were all below the 0.4th centile. The most striking features were profound facial hypomimia and marked generalized paucity of movement. There was also a degree of weakness, and mainly truncal ataxia. There was no tremor. She was not dysmorphic and had normal eye movements. She subsequently developed cataracts requiring surgical removal and learned to walk with support but remained profoundly bradykinetic. Investigations included a CK of 431 IU/l. CSF neurotransmitters were normal. MRI of the brain revealed cerebellar atrophy. Muscle biopsy featured increase in endomysial connective tissue, abnormal variability in fibre size and occasional fibres with basophilic stippling suggestive of vacuoles, positive for p62 on immunohistochemical stains. Genetic testing revealed a homozygous mutation in SIL1 , c.512_513delTT (p.Phe171Ter). Conclusions: We report the first case of MSS associated with a bradykinetic movement disorder. An association with movement disorders such as Parkinson’s Disease has been recently reported in other multisystem disorders with overlapping clinico-pathological features linked in similar molecular pathways, in particular LYST -related Chediak-Higashi Syndrome and EPG5 -related Vici Syndrome. Taken together, these findings suggest that aberrant neurodevelopment and neurodegeneration are different expressions of related defects in intracellular membrane trafficking and autophagy. Study Supported by: No funding obtained. Disclosure: Dr. Susan has nothing to disclose. Dr. Lumsden has nothing to disclose. Dr. Dlamini has nothing to disclose. Dr. Jungbluth has nothing to disclose.

Björn Guðbjörnsson - One of the best experts on this subject based on the ideXlab platform.

  • The prevalence of sicca symptoms in Iceland
    Læknafélag Íslands Læknafélag Reykjavíkur, 2008
    Co-Authors: Jórunn Atladóttir, Ólafur Grétar Guðmundsson, Holbrook Peter, Ragnar Sigurðsson, Björn Guðbjörnsson
    Abstract:

    Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenObjectives: Sjoegren' Syndrome is one of the most common inflammatory systemic rheumatic disorders. The Syndrome is characterised by tiredness, pain problems and mucosal dryness. The goal of this study is to elucidate the prevalence of sicca symptoms in the Icelandic population and to calculate the preliminary prevalence value for Sjoegren' Syndrome in Iceland. Material and methods: Random sample was retrieved from two age groups; 40-49 and 70-75 years Icelandic inhabitants of Reykjavík and Akureyri. Questionnaire with 14 questions of the most common symptoms of Sjoegren' Syndrome was mailed to those sampled. A small sample was evaluated by Schirmer-I test, tear film break up time (BUT) and Rose Bengal score for keratoconjunctivitis sicca (KCS) and unstimulated salivary flow rate was performed. Results: The questionnaire was sent to 621 subjects, 300 male and 321 female. The response rate was 74%. Of those 20.3% had subjective symptoms of dry eyes and 12.0% of dry mouth according to the six questions used in the European classification criteria (EEC). The prevalence of both was higher in females (p