Revista de neurologia · 2023
[Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients].
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Alcalá-Torres J, Pérez-de la Fuente R, Cárdenas-Del Carre A, Arteche-López A, Posada-Rodríguez I J
Аннотация
OBJECTIVES: To describe a series of patients with episodic ataxia type 2 (EA2), attending to epidemiological, clinical, radiological, and therapeutic variables.
MATERIAL AND METHODS: Retrospective revision of patients with molecular diagnosis of EA2 (CACNA1A mutations), between 1988 and 2022. Information achieved from the database of our Movement Disorders clinic. A descriptive statistical analysis was made.
RESULTS: Ten patients from five families were analyzed (six women). Median age at diagnosis was 37.5 years-old, with a median diagnostic delay of 20 years. 70% reported familial history of CACNA1A associated symptoms, although 50% presented migraine, epilepsy, dystonia, or neuropsychiatric alterations. Two heterozygous consanguineous patients had homozygotic descendance with infant mortality due to early-onset epileptic encephalopathy type 42. Five pathogenic/probably pathogenic CACNA1A variants were detected. 80% of patients had episodic triggers, being stress the most common. Episodes had a weekly frequency before treatment initiation. Six patients developed chronic ataxia (one patient demand gait support). 50% of patients with neuroimaging presented cerebellar atrophy. Acetazolamide were initiated in 80%, and 75% of them showed improvement of episodic symptoms. Nephrolithiasis was the most frequent side effect.
CONCLUSIONS: EA2 has a great intrafamilial and interfamilial phenotypic variability. The most frequent phenotype were weekly episodes of unsteadiness, several hours of length, stress as the main trigger, chronic ataxia and gaze-evoked nystagmus. Acetazolamide is effective, although complications are usual. Neurologist must be alert as diagnostic delay is constant.
MATERIAL AND METHODS: Retrospective revision of patients with molecular diagnosis of EA2 (CACNA1A mutations), between 1988 and 2022. Information achieved from the database of our Movement Disorders clinic. A descriptive statistical analysis was made.
RESULTS: Ten patients from five families were analyzed (six women). Median age at diagnosis was 37.5 years-old, with a median diagnostic delay of 20 years. 70% reported familial history of CACNA1A associated symptoms, although 50% presented migraine, epilepsy, dystonia, or neuropsychiatric alterations. Two heterozygous consanguineous patients had homozygotic descendance with infant mortality due to early-onset epileptic encephalopathy type 42. Five pathogenic/probably pathogenic CACNA1A variants were detected. 80% of patients had episodic triggers, being stress the most common. Episodes had a weekly frequency before treatment initiation. Six patients developed chronic ataxia (one patient demand gait support). 50% of patients with neuroimaging presented cerebellar atrophy. Acetazolamide were initiated in 80%, and 75% of them showed improvement of episodic symptoms. Nephrolithiasis was the most frequent side effect.
CONCLUSIONS: EA2 has a great intrafamilial and interfamilial phenotypic variability. The most frequent phenotype were weekly episodes of unsteadiness, several hours of length, stress as the main trigger, chronic ataxia and gaze-evoked nystagmus. Acetazolamide is effective, although complications are usual. Neurologist must be alert as diagnostic delay is constant.