Abstract
Neuronal ceroid lipofuscinoses (NCLs) are characterized by epilepsy, visual failure, psychomotor deterioration, and accumulation of autofluorescent lipopigment. CLN8 mutations result in Northern epilepsy and Turkish variant late infantile NCL. We describe the clinical and neurophysiological findings of three patients with CLN8 mutations from Italy. In these patients, the onset of epilepsy occurred between 3 and 6 years of age, with myoclonic, tonic-clonic, and atypical absence seizures. Electroencephalograms revealed focal and/or generalized abnormalities. In all cases, blindness and progressive attenuation of the electroretinogram were observed. Magnetic resonance imaging revealed cerebral and cerebellar atrophy, thinning of the corpus callosum, deep white matter hyperintensity, and hyperintensity of the posterior limb of internal capsules. Skin biopsy revealed lysosomal storage in the cytoplasm of fibroblasts. The clinical picture of our cases resembles that of the Turkish patients and clearly differs from that of Northern epilepsy, which is marked by a prolonged course without myoclonus and visual loss. Definition of the clinical spectrum of this condition will aid in its recognition and have implications for diagnosis and genetic counseling.
| Original language | English |
|---|---|
| Pages (from-to) | 187-191 |
| Number of pages | 5 |
| Journal | Epilepsy and Behavior |
| Volume | 10 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Feb 2007 |
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Keywords
- CLN8
- Electroencephalography
- Epilepsy
- Magnetic resonance imaging
- Neuronal ceroid lipofuscinosis
ASJC Scopus subject areas
- Clinical Neurology
- Behavioral Neuroscience
- Neurology
Cite this
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. / Striano, Pasquale; Specchio, Nicola; Biancheri, Roberta; Cannelli, Natalia; Simonati, Alessandro; Cassandrini, Denise; Rossi, Andrea; Bruno, Claudio; Fusco, Lucia; Gaggero, Roberto; Vigevano, Federico; Bertini, Enrico; Zara, Federico; Santorelli, Filippo M.; Striano, Salvatore.
In: Epilepsy and Behavior, Vol. 10, No. 1, 02.2007, p. 187-191.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations
AU - Striano, Pasquale
AU - Specchio, Nicola
AU - Biancheri, Roberta
AU - Cannelli, Natalia
AU - Simonati, Alessandro
AU - Cassandrini, Denise
AU - Rossi, Andrea
AU - Bruno, Claudio
AU - Fusco, Lucia
AU - Gaggero, Roberto
AU - Vigevano, Federico
AU - Bertini, Enrico
AU - Zara, Federico
AU - Santorelli, Filippo M.
AU - Striano, Salvatore
PY - 2007/2
Y1 - 2007/2
N2 - Neuronal ceroid lipofuscinoses (NCLs) are characterized by epilepsy, visual failure, psychomotor deterioration, and accumulation of autofluorescent lipopigment. CLN8 mutations result in Northern epilepsy and Turkish variant late infantile NCL. We describe the clinical and neurophysiological findings of three patients with CLN8 mutations from Italy. In these patients, the onset of epilepsy occurred between 3 and 6 years of age, with myoclonic, tonic-clonic, and atypical absence seizures. Electroencephalograms revealed focal and/or generalized abnormalities. In all cases, blindness and progressive attenuation of the electroretinogram were observed. Magnetic resonance imaging revealed cerebral and cerebellar atrophy, thinning of the corpus callosum, deep white matter hyperintensity, and hyperintensity of the posterior limb of internal capsules. Skin biopsy revealed lysosomal storage in the cytoplasm of fibroblasts. The clinical picture of our cases resembles that of the Turkish patients and clearly differs from that of Northern epilepsy, which is marked by a prolonged course without myoclonus and visual loss. Definition of the clinical spectrum of this condition will aid in its recognition and have implications for diagnosis and genetic counseling.
AB - Neuronal ceroid lipofuscinoses (NCLs) are characterized by epilepsy, visual failure, psychomotor deterioration, and accumulation of autofluorescent lipopigment. CLN8 mutations result in Northern epilepsy and Turkish variant late infantile NCL. We describe the clinical and neurophysiological findings of three patients with CLN8 mutations from Italy. In these patients, the onset of epilepsy occurred between 3 and 6 years of age, with myoclonic, tonic-clonic, and atypical absence seizures. Electroencephalograms revealed focal and/or generalized abnormalities. In all cases, blindness and progressive attenuation of the electroretinogram were observed. Magnetic resonance imaging revealed cerebral and cerebellar atrophy, thinning of the corpus callosum, deep white matter hyperintensity, and hyperintensity of the posterior limb of internal capsules. Skin biopsy revealed lysosomal storage in the cytoplasm of fibroblasts. The clinical picture of our cases resembles that of the Turkish patients and clearly differs from that of Northern epilepsy, which is marked by a prolonged course without myoclonus and visual loss. Definition of the clinical spectrum of this condition will aid in its recognition and have implications for diagnosis and genetic counseling.
KW - CLN8
KW - Electroencephalography
KW - Epilepsy
KW - Magnetic resonance imaging
KW - Neuronal ceroid lipofuscinosis
UR - http://www.scopus.com/inward/record.url?scp=33846371188&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33846371188&partnerID=8YFLogxK
U2 - 10.1016/j.yebeh.2006.10.009
DO - 10.1016/j.yebeh.2006.10.009
M3 - Article
VL - 10
SP - 187
EP - 191
JO - Epilepsy and Behavior
JF - Epilepsy and Behavior
SN - 1525-5050
IS - 1
ER -