Electroencephalographic findings in Kufs disease

Vadlamudi, L., Westmoreland, B. F., Klass, D. W. and Parisi, J. E. (2003) Electroencephalographic findings in Kufs disease. Clinical Neurophysiology, 114 9: 1738-1743. doi:10.1016/S1388-2457(03)00111-1

Author Vadlamudi, L.
Westmoreland, B. F.
Klass, D. W.
Parisi, J. E.
Title Electroencephalographic findings in Kufs disease
Journal name Clinical Neurophysiology   Check publisher's open access policy
ISSN 1388-2457
Publication date 2003-09
Sub-type Article (original research)
DOI 10.1016/S1388-2457(03)00111-1
Volume 114
Issue 9
Start page 1738
End page 1743
Total pages 6
Editor D. Burke
Place of publication Shannon, Ireland
Publisher Elsevier Ireland
Language eng
Subject 1103 Clinical Sciences
Formatted abstract
Objective To characterize the electroencephalographic (EEG) findings in patients with Kufs disease, the adult autosomal recessive form of neuronal ceroid-lipofuscinosis.

Methods: We reviewed the EEG findings in 5 patients with biopsy-proven Kufs disease from our institution and 14 case reports of Kufs disease in the literature. The criteria used for patient inclusion were clinical evidence of a progressive neurodegenerative disorder, biopsy-proven evidence of Kufs disease, and EEG recordings during the course of the illness.

Results: One patient had phenotype A with generalized atypical spike and slow wave complexes and marked photoparoxysmal responses, particularly at low flash frequencies. Three patients had phenotype B with generalized slowing. One patient in the miscellaneous category showed focal sharp and spike waves and quasi-periodic slow waves maximal over anterior regions of the head. Review of the literature identified 14 case reports that met the inclusion criteria.

Conclusions: The inheritance, mechanism, and manifestations of Kufs disease are not well understood. EEG findings may guide clinicians toward a confirmatory pathological diagnosis and distinguish various phenotypes of this disorder.

Significance: The EEG may assist in the diagnosis of Kufs disease.
Keyword Adult neuronal ceroid-lipofuscinosis
Kufs disease
Lysosomal storage diseases
Progressive myoclonic epilepsy
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
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Created: Tue, 12 Jan 2010, 13:00:28 EST by Gerald Martin on behalf of Faculty Of Health Sciences