TY - JOUR
T1 - The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting
AU - Lempel, Noga
AU - Shelly, Shahar
AU - Chorin, Odelia
AU - Rock, Rachel
AU - Eliyahu, Aviva
AU - Finezilber, Yael
AU - Poran, Hana
AU - Feinstein-Goren, Neta
AU - Segev, Meirav
AU - Reznik-Wolf, Haike
AU - Barel, Ortal
AU - Orion, David
AU - Anis, Saar
AU - Regev, Miriam
AU - Yonath, Hagith
AU - Dominissini, Dan
AU - Blatt, Ilan
AU - Hassin-Baer, Sharon
AU - Dori, Amir
AU - Pras, Elon
AU - Greenbaum, Lior
N1 - Publisher Copyright:
© 2024 Elsevier B.V.
PY - 2024/8/15
Y1 - 2024/8/15
N2 - Genetic workup is becoming increasingly common in the clinical assessment of neurological disorders. We evaluated its yield among middle-aged and elderly neurological patients, in a real-world context. This retrospective study included 368 consecutive Israeli patients aged 50 years and older (202 [54.9%] males), who were referred to a single neurogenetics clinic between 2017 and mid-2023. All had neurological disorders, without a previous molecular diagnosis. Demographic, clinical and genetic data were collected from medical records. The mean age at first genetic counseling at the clinic was 62.3 ± 7.8 years (range 50–85 years), and the main indications for referral were neuromuscular, movement and cerebrovascular disorders, as well as cognitive impairment and dementia. Out of the 368 patients, 245 (66.6%) underwent genetic testing that included exome sequencing (ES), analysis of nucleotide repeat expansions, detection of specific mutations, targeted gene panel sequencing or chromosomal microarray analysis. Overall, 80 patients (21.7%) received a molecular diagnosis due to 36 conditions, accounting for 32.7% of the patients who performed genetic testing. The diagnostic rates were highest for neuromuscular (58/186 patients [31.2%] in this group, 39.2% of 148 tested individuals) and movement disorders (14/79 [17.7%] patients, 29.2% of 48 tested), but lower for other disorders. Testing of nucleotide repeat expansions and ES provided a diagnosis to 28/73 (38.4%) and 19/132 (14.4%) individuals, respectively. Based on our findings, genetic workup and testing are useful in the diagnostic process of neurological patients aged ≥50 years, in particular for those with neuromuscular and movement disorders.
AB - Genetic workup is becoming increasingly common in the clinical assessment of neurological disorders. We evaluated its yield among middle-aged and elderly neurological patients, in a real-world context. This retrospective study included 368 consecutive Israeli patients aged 50 years and older (202 [54.9%] males), who were referred to a single neurogenetics clinic between 2017 and mid-2023. All had neurological disorders, without a previous molecular diagnosis. Demographic, clinical and genetic data were collected from medical records. The mean age at first genetic counseling at the clinic was 62.3 ± 7.8 years (range 50–85 years), and the main indications for referral were neuromuscular, movement and cerebrovascular disorders, as well as cognitive impairment and dementia. Out of the 368 patients, 245 (66.6%) underwent genetic testing that included exome sequencing (ES), analysis of nucleotide repeat expansions, detection of specific mutations, targeted gene panel sequencing or chromosomal microarray analysis. Overall, 80 patients (21.7%) received a molecular diagnosis due to 36 conditions, accounting for 32.7% of the patients who performed genetic testing. The diagnostic rates were highest for neuromuscular (58/186 patients [31.2%] in this group, 39.2% of 148 tested individuals) and movement disorders (14/79 [17.7%] patients, 29.2% of 48 tested), but lower for other disorders. Testing of nucleotide repeat expansions and ES provided a diagnosis to 28/73 (38.4%) and 19/132 (14.4%) individuals, respectively. Based on our findings, genetic workup and testing are useful in the diagnostic process of neurological patients aged ≥50 years, in particular for those with neuromuscular and movement disorders.
KW - Diagnostic yield
KW - Exome sequencing
KW - Genetic testing
KW - Neurogenetics
KW - Neurological disorders
KW - Older population
UR - http://www.scopus.com/inward/record.url?scp=85197440195&partnerID=8YFLogxK
U2 - 10.1016/j.jns.2024.123074
DO - 10.1016/j.jns.2024.123074
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C2 - 38968664
AN - SCOPUS:85197440195
SN - 0022-510X
VL - 463
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
M1 - 123074
ER -