Abstract
We investigated the neurochemical pattern in patients with Benign Adult Familial Myoclonic Epilepsy (BAFME/FAME), an inherited form of myoclonic epilepsy, by proton MR spectroscopy (1H-MRS). Methods: eleven BAFME patients from three families showing linkage to 2p11.1-q12.2 were compared with eleven age-matched healthy control subjects. Results: patients with BAFME displayed elevated Choline/creatine ratio in the cerebellum cortex (p = 0.01). No 1H-MRS values in the frontal and occipital cortex significantly differed in the patients compared with the healthy controls. No correlation was detected between 1H-MRS values and disease duration (ρ = -0,35) as well as myoclonus severity (ρ = -0,48). Conclusions: our findings confirm that cerebellum is the prominent site of dysfunction in BAFME. 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.
| Original language | Italian |
|---|---|
| Pages (from-to) | 121-124 |
| Number of pages | 4 |
| Journal | Bollettino - Lega Italiana contro l'Epilessia |
| Issue number | 138 |
| Publication status | Published - 2008 |
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ASJC Scopus subject areas
- Clinical Neurology
Cite this
Disfunzione cerebellare nella Benign Adult Familial Myoclonic Epilepsy (BAFME/FAME) : Studio con 1H-MRI spettroscopia in 3 famiglie con evidenza di "founder effect". / Striano, P.; Errichiello, L.; Pagano, G.; Pascarella, A.; Caranci, F.; Striano, S.
In: Bollettino - Lega Italiana contro l'Epilessia, No. 138, 2008, p. 121-124.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Disfunzione cerebellare nella Benign Adult Familial Myoclonic Epilepsy (BAFME/FAME)
T2 - Studio con 1H-MRI spettroscopia in 3 famiglie con evidenza di "founder effect"
AU - Striano, P.
AU - Errichiello, L.
AU - Pagano, G.
AU - Pascarella, A.
AU - Caranci, F.
AU - Striano, S.
PY - 2008
Y1 - 2008
N2 - We investigated the neurochemical pattern in patients with Benign Adult Familial Myoclonic Epilepsy (BAFME/FAME), an inherited form of myoclonic epilepsy, by proton MR spectroscopy (1H-MRS). Methods: eleven BAFME patients from three families showing linkage to 2p11.1-q12.2 were compared with eleven age-matched healthy control subjects. Results: patients with BAFME displayed elevated Choline/creatine ratio in the cerebellum cortex (p = 0.01). No 1H-MRS values in the frontal and occipital cortex significantly differed in the patients compared with the healthy controls. No correlation was detected between 1H-MRS values and disease duration (ρ = -0,35) as well as myoclonus severity (ρ = -0,48). Conclusions: our findings confirm that cerebellum is the prominent site of dysfunction in BAFME. 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.
AB - We investigated the neurochemical pattern in patients with Benign Adult Familial Myoclonic Epilepsy (BAFME/FAME), an inherited form of myoclonic epilepsy, by proton MR spectroscopy (1H-MRS). Methods: eleven BAFME patients from three families showing linkage to 2p11.1-q12.2 were compared with eleven age-matched healthy control subjects. Results: patients with BAFME displayed elevated Choline/creatine ratio in the cerebellum cortex (p = 0.01). No 1H-MRS values in the frontal and occipital cortex significantly differed in the patients compared with the healthy controls. No correlation was detected between 1H-MRS values and disease duration (ρ = -0,35) as well as myoclonus severity (ρ = -0,48). Conclusions: our findings confirm that cerebellum is the prominent site of dysfunction in BAFME. 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.
KW - H-MRS
KW - BAFME
KW - Cortical tremor
KW - Linkage
KW - Magnetic resonance spectroscopy
KW - Myoclonus
UR - http://www.scopus.com/inward/record.url?scp=77953094628&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77953094628&partnerID=8YFLogxK
M3 - Articolo
SP - 121
EP - 124
JO - Bollettino - Lega Italiana contro l'Epilessia
JF - Bollettino - Lega Italiana contro l'Epilessia
SN - 0394-560X
IS - 138
ER -