A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity

Marsha Zeigler; Vardiella Meiner; J. P. Newman; Bettina Steiner-Birmanns; Ruth Bargal; Vivi Sury; Getu Mengistu; Or Kakhlon; Ina Leykin; Zohar Argov; Oded Abramsky; Alexander Lossos

doi:10.1016/j.jns.2014.01.022

A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity

Marsha Zeigler, Vardiella Meiner, J. P. Newman, Bettina Steiner-Birmanns, Ruth Bargal, Vivi Sury, Getu Mengistu, Or Kakhlon, Ina Leykin, Zohar Argov, Oded Abramsky, Alexander Lossos^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

19 Scopus citations

Abstract

Action myoclonus renal failure (AMRF) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene. This gene is involved in lysosomal mannose-6-phosphate- independent trafficking of β-glucocerebrosidase (GC), an enzyme deficient in Gaucher disease. We report a family with myoclonic epilepsy, ataxia and skeletal muscle atrophy but without cognitive impairment or overt renal disease. A novel SCARB2 mutation was indicated by a striking discrepancy between lymphocyte and fibroblast GC activity in the proband evaluated for possible Gaucher disease. Our findings expand the genetic and phenotypic diversity of AMRF and suggest that low GC activity may present an important biochemical clue to the diagnosis of AMRF.

Original language	English
Pages (from-to)	210-213
Number of pages	4
Journal	Journal of the Neurological Sciences
Volume	339
Issue number	1-2
DOIs	https://doi.org/10.1016/j.jns.2014.01.022
State	Published - 15 Apr 2014
Externally published	Yes

Keywords

Action myoclonus renal failure syndrome
Ataxia
Gaucher disease
LIMP2
Progressive myoclonus epilepsy
SCARB2

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10.1016/j.jns.2014.01.022

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Zeigler, M., Meiner, V., Newman, J. P., Steiner-Birmanns, B., Bargal, R., Sury, V., Mengistu, G., Kakhlon, O., Leykin, I., Argov, Z., Abramsky, O., & Lossos, A. (2014). A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity. Journal of the Neurological Sciences, 339(1-2), 210-213. https://doi.org/10.1016/j.jns.2014.01.022

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title = "A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity",

abstract = "Action myoclonus renal failure (AMRF) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene. This gene is involved in lysosomal mannose-6-phosphate- independent trafficking of β-glucocerebrosidase (GC), an enzyme deficient in Gaucher disease. We report a family with myoclonic epilepsy, ataxia and skeletal muscle atrophy but without cognitive impairment or overt renal disease. A novel SCARB2 mutation was indicated by a striking discrepancy between lymphocyte and fibroblast GC activity in the proband evaluated for possible Gaucher disease. Our findings expand the genetic and phenotypic diversity of AMRF and suggest that low GC activity may present an important biochemical clue to the diagnosis of AMRF.",

keywords = "Action myoclonus renal failure syndrome, Ataxia, Gaucher disease, LIMP2, Progressive myoclonus epilepsy, SCARB2",

author = "Marsha Zeigler and Vardiella Meiner and Newman, {J. P.} and Bettina Steiner-Birmanns and Ruth Bargal and Vivi Sury and Getu Mengistu and Or Kakhlon and Ina Leykin and Zohar Argov and Oded Abramsky and Alexander Lossos",

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Zeigler, M, Meiner, V, Newman, JP, Steiner-Birmanns, B, Bargal, R, Sury, V, Mengistu, G, Kakhlon, O, Leykin, I, Argov, Z, Abramsky, O & Lossos, A 2014, 'A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity', Journal of the Neurological Sciences, vol. 339, no. 1-2, pp. 210-213. https://doi.org/10.1016/j.jns.2014.01.022

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AU - Newman, J. P.

AU - Steiner-Birmanns, Bettina

AU - Bargal, Ruth

AU - Sury, Vivi

AU - Mengistu, Getu

AU - Kakhlon, Or

AU - Leykin, Ina

AU - Argov, Zohar

AU - Abramsky, Oded

AU - Lossos, Alexander

PY - 2014/4/15

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A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity

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