1H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy

Pasquale Striano, Ferdinando Caranci, Raffaella Di Benedetto, Fabio Tortora, Federico Zara, Salvatore Striano

Research output: Contribution to journalArticle

Abstract

Purpose: To investigate the neurochemical pattern in patients with benign adult familial myoclonic epilepsy (BAFME/FAME), an inherited form of myoclonic epilepsy, by proton magnetic resonance (MR) spectroscopy ( 1H-MRS). Methods: Eleven BAFME patients from three families showing linkage to 2p11.1-q12.2 were compared with 11 age-matched healthy control subjects. Results: MR imaging of all the patients and healthy subjects exhibited no structural abnormalities on detailed visual assessment. However, compared with healthy subjects, patients with BAFME displayed elevated choline/creatine ratio in the cerebellar cortex (p = 0.01), whereas there was no significant difference for the other ratios. No 1H-MRS values in the frontal and occipital cortex differed significantly in the patients compared with the healthy controls. No correlation was detected between 1H-MRS values and disease duration (p = -0.35) as well as myoclonus severity (p = -0.48). Conclusions: Our findings suggest that the cerebellum is a prominent site of dysfunction in BAFME. The abnormal choline concentrations could reflect changes in the chemical and functional nature of cell membranes. 1H-MRS was able to detect brain changes also in patients with recent disease onset and may be a useful tool supporting the diagnosis based on familial and electrophysiologic data. The relationship between cortical tremor and the cerebellum is also discussed.

Original languageEnglish
Pages (from-to)1491-1497
Number of pages7
JournalEpilepsia
Volume50
Issue number6
DOIs
Publication statusPublished - Jun 2009

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Myoclonic Epilepsy
Cerebellar Diseases
Magnetic Resonance Spectroscopy
Healthy Volunteers
Choline
Cerebellum
Occipital Lobe
Cerebellar Cortex
Myoclonus
Creatine
Frontal Lobe
Tremor
Magnetic Resonance Imaging
Cell Membrane
Proton Magnetic Resonance Spectroscopy
Brain

Keywords

  • H-MRS
  • BAFME
  • Cerebellum
  • Cortical tremor
  • Linkage
  • Magnetic resonance spectroscopy
  • Myoclonus

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

1H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy. / Striano, Pasquale; Caranci, Ferdinando; Di Benedetto, Raffaella; Tortora, Fabio; Zara, Federico; Striano, Salvatore.

In: Epilepsia, Vol. 50, No. 6, 06.2009, p. 1491-1497.

Research output: Contribution to journalArticle

Striano, Pasquale ; Caranci, Ferdinando ; Di Benedetto, Raffaella ; Tortora, Fabio ; Zara, Federico ; Striano, Salvatore. / 1H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy. In: Epilepsia. 2009 ; Vol. 50, No. 6. pp. 1491-1497.
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N2 - Purpose: To investigate the neurochemical pattern in patients with benign adult familial myoclonic epilepsy (BAFME/FAME), an inherited form of myoclonic epilepsy, by proton magnetic resonance (MR) spectroscopy ( 1H-MRS). Methods: Eleven BAFME patients from three families showing linkage to 2p11.1-q12.2 were compared with 11 age-matched healthy control subjects. Results: MR imaging of all the patients and healthy subjects exhibited no structural abnormalities on detailed visual assessment. However, compared with healthy subjects, patients with BAFME displayed elevated choline/creatine ratio in the cerebellar cortex (p = 0.01), whereas there was no significant difference for the other ratios. No 1H-MRS values in the frontal and occipital cortex differed significantly in the patients compared with the healthy controls. No correlation was detected between 1H-MRS values and disease duration (p = -0.35) as well as myoclonus severity (p = -0.48). Conclusions: Our findings suggest that the cerebellum is a prominent site of dysfunction in BAFME. The abnormal choline concentrations could reflect changes in the chemical and functional nature of cell membranes. 1H-MRS was able to detect brain changes also in patients with recent disease onset and may be a useful tool supporting the diagnosis based on familial and electrophysiologic data. The relationship between cortical tremor and the cerebellum is also discussed.

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