Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Myoclonus-nephropathy syndrome is an autosomal recessive disorder caused by mutations of the SCARB2 gene. Neurological and nephrological symptoms may be isolated. The neurology includes progressive myoclonic epilepsy. The nephrological pathology is characterized by prorgressive glomerular nephropathy with sometimes nephrotic range proteinuria. Histomorphology includes collapsing glomerulopathy and glomerulosclerosis. Manifestation is in young adults.
The action myoclonus–renal failure syndrome was first described in a poster abstract in 1981 and then published 1986 by the same author, Andermann E.[Error: Macro 'ref' doesn't exist]
Hereditary glomerular disease
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Fibronectin glomerulopathy
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Glomerulonephritis
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Glomerulosclerosis
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Lipoprotein glomerulopathy
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Myoclonus-nephropathy syndrome
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SCARB2
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Nephritic syndrome
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Nephrotic syndrome
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| 1. |
Badhwar A et al. (2004) Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder. 
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| 2. |
Berkovic SF et al. (2008) Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
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| 3. |
Balreira A et al. (2008) A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
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| 4. |
Costello DJ et al. (2009) Progressive myoclonus epilepsy with demyelinating peripheral neuropathy and preserved intellect: a novel syndrome.
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| 5. |
Dibbens LM et al. (2009) SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
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| 6. |
Dibbens LM et al. (2011) Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
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| 7. |
Vadlamudi L et al. (2006) Action myoclonus-renal failure syndrome: a cause for worsening tremor in young adults.
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| 8. |
Andermann E et al. (1986) Action myoclonus-renal failure syndrome: a previously unrecognized neurological disorder unmasked by advances in nephrology.
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| 9. |
OMIM.ORG article Omim 254900
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| 10. |
Orphanet article Orphanet ID 163696
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