Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Theuriet Julian, Paulet Lukas, Acket Blandine, Ory-Magne Fabienne, Belbachir Hocine, Chanson Jean-Baptiste, Bouhour Françoise, Laurencin Chloé, Froment Tilikete Caroline, Lardeux Pierre, Clement Guillemette, Hocquel Armand, Renaud Mathilde, Bonnet Céline, Marelli Cecilia, Weber Sacha, Comet Camille, Azulay Jean-Philippe, Fluchère Frédérique, Coarelli Giulia, Heinzmann Anna, Ewenczyk Claire, Verny Christophe, Guillet-Pichon Virginie, Guyant-Marechal Lucie, Desjardins Clément, Riou Audrey, Degos Bertrand, Mercier Sandra, Goizet Cyril, Degoutin Manon, Angelini Chloé, Laurens Brice, Degardin Adrian, Carrière Nicolas, Le Guyader Gwenaël, Schneider Vincent, Dupont Gwendoline, Thomas Quentin, Merindol Maxime, Besse-Pinot Elsa, Méneret Aurélie, Roze Emmanuel, Durr Alexandra, Thobois Stéphane, Anheim Mathieu, Wirth Thomas, Pegat Antoine
Аннотация
METHODS: A retrospective, multicenter study in which medical records of SCA27B patients diagnosed between January 2023 and July 2024 in 21 French ataxia/neurogenetic centers were reviewed. Those who had undergone electrodiagnostic study were included.
RESULTS: Among 332 SCA27B patients, 170 had undergone an electrodiagnostic study and were included. Forty-two (25%) were diagnosed with neuropathy: 16 with length-dependent axonal sensorimotor neuropathy, 24 with length-dependent axonal sensory neuropathy, one with sensory, and one with motor neuronopathy. Neuropathy was associated with male sex, older age at electrodiagnostic study, and risk factors for neuropathy but not with GAA expansion sizes. Patients with neuropathy had more severe disability at the last visit (median SARA score 12 vs. 8, p = 0.0024).
CONCLUSIONS: The prevalence of neuropathy in SCA27B patients was similar to that reported in the elderly general population. Neuropathies were predominantly non-specific length-dependent axonal neuropathies, primarily driven by aging and known risk factors rather than the underlying genetic abnormality.