Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Myoclonus-nephropathy syndrome

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.

Historical Aspects

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]

Systematic

Hereditary glomerular disease
Fibronectin glomerulopathy
Glomerulonephritis
Glomerulosclerosis
Lipoprotein glomerulopathy
Myoclonus-nephropathy syndrome
SCARB2
Nephritic syndrome
Nephrotic syndrome

References:

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 [^]
10.

Orphanet article

Orphanet ID 163696 [^]
Update: April 29, 2019