title: [Adult GM2 gangliosidosis: improvement of ataxia with GABAergic drugs].
abstract: The authors present a case of adult GM2 gangliosidosis, B1 enzymatic type. The main clinical features found were cerebellar ataxia, proximal lower limb weakness and myokymia. The neurological examination, and the biochemical, electrophysiologic and imaging studies are all described. Decreased activity of the enzyme beta-hexosaminidase A in the metabolism of the sulfate substrate 4-MU-NAGS was found in serum. Global cerebellar atrophy was observed in a cranial nuclear magnetic resonance. The electrophysiologic study showed continuous spontaneous activity integrated by myokymia and neuromyotonic discharges in addition to signs of acute and chronic denervation. Disappearance of the myokymia and improvement in the ataxia were attained with the use of the GABAergic drugs gabapentin and tiagabine. The authors try to explain the clinical improvement obtained with the drugs by relating their mechanisms of action to the central nervous system neurotransmitter alterations proposed for this disease.
authors.affiliation: Unidad de Neurología. Hospital San Jorge. Huesca. Spain.
authors.forename: J
authors.initials: J
authors.lastname: Gazulla Abío
authors.forename: I
authors.initials: I
authors.lastname: Benavente Aguilar
mesh_terms: D000085:Acetates / Q000627:therapeutic use*; D000328:Adult; D000588:Amines; D001259:Ataxia / Q000175:diagnosis / Q000188:drug therapy* / Q000209:etiology*; D002531:Cerebellum / Q000473:pathology; D003509:Cyclohexanecarboxylic Acids; D018691:Excitatory Amino Acid Antagonists / Q000627:therapeutic use*; D018755:GABA Agonists / Q000627:therapeutic use*; D000077206:Gabapentin; D020143:Gangliosidoses, GM2 / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D020385:Myokymia / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D009557:Nipecotic Acids / Q000627:therapeutic use*; D000078308:Tiagabine; D014057:Tomography, X-Ray Computed; D001619:beta-N-Acetylhexosaminidases / Q000378:metabolism; D005680:gamma-Aminobutyric Acid
chemical_list: D000085:Acetates; D000588:Amines; D003509:Cyclohexanecarboxylic Acids; D018691:Excitatory Amino Acid Antagonists; D018755:GABA Agonists; D009557:Nipecotic Acids; D005680:gamma-Aminobutyric Acid; D000077206:Gabapentin; D001619:beta-N-Acetylhexosaminidases; D000078308:Tiagabine
vernacular_title: Gangliosidosis GM2 del adulto: mejoría de la ataxia con fármacos GABAérgicos.