Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy.
Episodic ataxia type1 (EA1) is an autosomal dominant disorder characterised by episodes of ataxia, dysarthria, tremor and visual disturbances lasting for seconds or minutes, precipitated by physical and emotional stress, startle or sudden movements. In addition there is continuous myokymia. Phenotypic variants such as the combination with epilepsy, shortening of the Achilles tendon in children, transient postural abnormalities in infancy, and a very few patients with longer lasting episodes have been reported. We describe a 10-year-old girl with EA1 who has distal weakness with paresis of the extensors of the feet and prolonged spells of limb stiffness (neuromyotonia) lasting up to 12 hours. A novel single nucleotide change at position 785 T > C that alters a highly conserved residue in the third transmembrane segment of the voltage-gated potassium channel Kv1.1 was found.
Klein
A
A
Department of Neurology, University Children's Hospital, Zurich, Switzerland. andrea.klein@kispi.unizh.ch
Boltshauser
E
E
Jen
J
J
Baloh
R W
RW
D001259:Ataxia / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D051662:Kv1.1 Potassium Channel; D018908:Muscle Weakness / Q000235:genetics*; D017354:Point Mutation; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D012720:Severity of Illness Index; D013997:Time Factors
C496946:KCNA1 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D051662:Kv1.1 Potassium Channel