TY - JOUR
T1 - Natural History of SURF1 Deficiency
T2 - A Retrospective Chart Review
AU - Khan, Tuba Rashid
AU - Leprince, Inka
AU - Messahel, Souad
AU - Minassian, Berge A.
AU - Kayani, Saima
N1 - Funding Information:
B.A.M. holds the University of Texas Southwestern Jimmy Elizabeth Westcott Chair in Pediatric Neurology. The authors wish to thank Eshetu Tesfaye, Elizabeth Li, and Jessica Cardenas, PhD, for their critical review and assistance in preparation of the manuscript. Taysha Gene Therapies, Inc. , was involved in data analysis, data interpretation, and writing of publication. Medical writing assistance was provided by Marjet Heitzer, PhD, of 360 Medical Writing and sponsored by Taysha Gene Therapies.
Funding Information:
B.A.M. holds the University of Texas Southwestern Jimmy Elizabeth Westcott Chair in Pediatric Neurology. The authors wish to thank Eshetu Tesfaye, Elizabeth Li, and Jessica Cardenas, PhD, for their critical review and assistance in preparation of the manuscript. Taysha Gene Therapies, Inc., was involved in data analysis, data interpretation, and writing of publication. Medical writing assistance was provided by Marjet Heitzer, PhD, of 360 Medical Writing and sponsored by Taysha Gene Therapies.
Publisher Copyright:
© 2022 Elsevier Inc.
PY - 2023/3
Y1 - 2023/3
N2 - Background: This retrospective chart review evaluated the clinical characteristics of SURF1-related neurological disease spectrum to better characterize the phenotypes. Methods: Patient demographics, magnetic resonance imaging abnormalities, neurological events, motor abnormalities, and gastrointestinal and respiratory assistance were evaluated in 27 patients with genetically diagnosed SURF1 deficiency. Results: The mean (S.D.) age of symptom onset collected from 13 patients was 19.7 (11.8) months. Mean (S.D.) age of diagnosis collected from 24 patients was 44.0 (45.1) months. The most common symptoms were gross motor delay (14 of 14), fine motor delay (10 of 11), verbal delay (9 of 10), and intellectual and learning disability (14 of 19). Neurological symptoms included ataxia (14 of 15), other abnormal movements (8 of 9), hypotonia (9 of 11), and dystonia (6 of 9). Three of nine reporting patients (33.3%) had a history of seizure, and 84.6% (11 of 13) had a history of regression/loss of acquired skills. Extraneurological clinical features included pulmonary complications (10 of 11) and feeding difficulties (13 of 13); cardiac complications were noted in three patients. Brainstem is frequently involved with the medulla and midbrain being the most common sites. As of July 2021, three patients were deceased. Conclusions: The most common clinical symptoms were motor delay, verbal delay, intellectual and learning disability, dysphagia, feeding difficulties, and reflux. Neurological presentations include ataxia, hypotonia, visual/ocular abnormalities, dystonia, and imaging abnormalities include basal ganglia and brainstem lesions. Although heterogeneous, SURF1 deficiency should be considered with these clinical and imaging presentations and may support earlier identification.
AB - Background: This retrospective chart review evaluated the clinical characteristics of SURF1-related neurological disease spectrum to better characterize the phenotypes. Methods: Patient demographics, magnetic resonance imaging abnormalities, neurological events, motor abnormalities, and gastrointestinal and respiratory assistance were evaluated in 27 patients with genetically diagnosed SURF1 deficiency. Results: The mean (S.D.) age of symptom onset collected from 13 patients was 19.7 (11.8) months. Mean (S.D.) age of diagnosis collected from 24 patients was 44.0 (45.1) months. The most common symptoms were gross motor delay (14 of 14), fine motor delay (10 of 11), verbal delay (9 of 10), and intellectual and learning disability (14 of 19). Neurological symptoms included ataxia (14 of 15), other abnormal movements (8 of 9), hypotonia (9 of 11), and dystonia (6 of 9). Three of nine reporting patients (33.3%) had a history of seizure, and 84.6% (11 of 13) had a history of regression/loss of acquired skills. Extraneurological clinical features included pulmonary complications (10 of 11) and feeding difficulties (13 of 13); cardiac complications were noted in three patients. Brainstem is frequently involved with the medulla and midbrain being the most common sites. As of July 2021, three patients were deceased. Conclusions: The most common clinical symptoms were motor delay, verbal delay, intellectual and learning disability, dysphagia, feeding difficulties, and reflux. Neurological presentations include ataxia, hypotonia, visual/ocular abnormalities, dystonia, and imaging abnormalities include basal ganglia and brainstem lesions. Although heterogeneous, SURF1 deficiency should be considered with these clinical and imaging presentations and may support earlier identification.
KW - Charcot-Marie-Tooth disease 4K
KW - Leigh syndrome
KW - Mitochondrial disease
KW - SURF1
KW - SURF1 deficiency
UR - http://www.scopus.com/inward/record.url?scp=85146016018&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85146016018&partnerID=8YFLogxK
U2 - 10.1016/j.pediatrneurol.2022.12.002
DO - 10.1016/j.pediatrneurol.2022.12.002
M3 - Article
C2 - 36599233
AN - SCOPUS:85146016018
SN - 0887-8994
VL - 140
SP - 40
EP - 46
JO - Pediatric Neurology
JF - Pediatric Neurology
ER -