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:C0028738 (
nystagmus
)
7,431
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Episodic ataxias (EAs) are characterized by recurrent, discrete episodes of vertigo and ataxia.
EA1
and EA2 are the two most common forms. In the interictal interval, myokymia is typically present in
EA1
, whereas EA2 patients present with interictal
nystagmus
. Specific pharmacological therapies are available for
EA1
and especially EA2. We briefly discuss the case of an Italian young man with EA2, with a novel
de novo CACNA1A
mutation, who in our opinion is particularly illustrative for introducing the therapeutic approach. Acetazolamide could fully suppress EA episodes in our patient. We also provide a perspective review of the topic. 4-Aminopyridine is another valid treatment option. For
EA1
(and for rarer EAs), the therapeutic possibilities are more limited. Carbamazepine is probably the treatment of choice for
EA1
, but the optimal treatment plan is unknown. A better understanding of the molecular processes involved in the mediation of EAs will lead to more specific and efficacious therapies for this still elusive group of disorders.
...
PMID:Therapy of episodic ataxias: case report and review of the literature. 3089 Oct 74
