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Literature DB >> 1469407

Diagnosis by axilla skin biopsy in an early case of Lafora's disease.

G Rubio¹, C Garcia Guijo, J J Mallada, A Cabello, A Garcia Merino.

Abstract

Myoclonus, seizures and progressive dementia are the main clinical features in Lafora's disease. This is the first reported case in which the diagnosis has been made by axillary skin biopsy in a patient with myoclonus but no other neurological symptoms.

Entities: Disease Species

Mesh：

Substances：
Valproic Acid

Year: 1992 PMID： 1469407 PMCID： PMC1015298 DOI： 10.1136/jnnp.55.11.1084

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

14 in total

1. Longitudinal clinicoelectrophysiologic study of a case of Lafora disease proven by skin biopsy.

Authors: K Kobayashi; K Iyoda; Y Ohtsuka; S Ohtahara; M Yamada
Journal: Epilepsia Date: 1990 Mar-Apr Impact factor: 5.864

2. The myocardium in Lafora disease.

Authors: S Yokoi; Y Aihara; S Maeda
Journal: Acta Neuropathol Date: 1975-12-30 Impact factor: 17.088

3. Lafora's disease. The role of skin biopsy.

Authors: G A Newton; R L Sanchez; J Swedo; E B Smith
Journal: Arch Dermatol Date: 1987-12

4. Lafora's disease: what is the best site for skin biopsy?

Authors: C P Samlaska; J McBurney; P Sau; W D James
Journal: J Am Acad Dermatol Date: 1989-10 Impact factor: 11.527

5. Studies in myoclonus epilepsy. (Lafora body form). IV. Skeletal muscle abnormalities.

Authors: H E Neville; M H Brooke; J H Austin
Journal: Arch Neurol Date: 1974-06

6. Visual ictal phenomena in a case of Lafora disease proven by skin biopsy.

Authors: P Tinuper; U Aguglia; J F Pellissier; H Gastaut
Journal: Epilepsia Date: 1983-04 Impact factor: 5.864

7. Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy.

Authors: S Carpenter; G Karpati
Journal: Neurology Date: 1981-12 Impact factor: 9.910

8. Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease.

Authors: H L Busard; A A Gabreëls-Festen; W O Renier; F J Gabreëls; A M Stadhouders
Journal: Ann Neurol Date: 1987-06 Impact factor: 10.422

9. [Early diagnosis of Lafora disease. Significance of paroxysmal visual manifestations and contribution of skin biopsy].

Authors: J Roger; J F Pellissier; M Bureau; C Dravet; M Revol; P Tinuper
Journal: Rev Neurol (Paris) Date: 1983 Impact factor: 2.607