Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0013362 (
dysarthria
)
3,768
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
A 44-year-old man presented with symptoms of periodic ataxia,
dysarthria
, nausea and excessive sweating during the last twenty years. These symptoms could be provoked by physical or
emotional stress
and disappeared after bedrest for several hours. No other members of his family were known to have such complaints. Acetazolamide (Diamox) proved effective in preventing these symptoms. A disturbance of tryptophan metabolism is suggested as a cause of this disorder.
...
PMID:Non-familial periodic ataxia responding to acetazolamide. 398 40
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.
...
PMID:Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy. 1512 17
Objectives:
Vestibular migraine (VM) is a common vestibular disorder, and familial aggregation of VM with autosomal-dominant inheritance has been described, which supports a genetic background. This study aimed to describe the clinical phenotype of a family with VM, and identify a candidate gene for VM.
Methods:
We recruited six individuals (four affected and two unaffected) from three consecutive generations of a Korean family with VM, and performed whole-exome sequencing to search for candidate genes.
Results:
All affected individuals presented with recurrent vertigo, headache, and nausea/vomiting that fulfilled the diagnostic criteria of VM. Two individuals also experienced transient hemiparesis or
dysarthria
during the episodes. The symptoms were triggered by physical or
emotional stress
. Interictal examinations showed uni- or bi-directional horizontal gaze-evoked nystagmus in three of the individuals. They had no causative mutations in genes causing familial hemiplegic migraine or episodic ataxia. Through whole-exome sequencing from three affected individuals, we identified a nonsense mutation c.3526C>T in
TRPM7
that encodes a cation channel selective to Ca
2+
and Mg
2+
.
Conclusions:
Alterations in intracellular Ca
2+
and Mg
2+
homeostasis by
TRPM7
mutation may contribute to the development of the VM phenotype. Our result suggest that
TRPM7
is a novel candidate gene for VM.
...
PMID:
TRPM7
as a Candidate Gene for Vestibular Migraine. 3319 64
