Pedigree analysis of lumbar developmental spinal stenosis: Determination of potential inheritance patterns

Abstract

Lumbar developmental spinal stenosis (DSS) refers to multilevel pre‐existing narrowed spinal canals, which predispose to neural compromise. The objective of this study is to identify any inheritance pattern of DSS by utilizing pedigree charts. This was a case series of 13 families with a total of 80 subjects having magnetic resonance imaging (MRI) from L1 to S1. Cases (subjects with DSS) or controls (subjects without DSS) were identified by measuring their anteroposterior (AP) vertebral canal diameters. Multilevel model analyses were also performed to evaluate whether there is substantial clustering of observations within the families, and the effect of multilevel DSS. The intraclass correlation coefficient (ICC) and Akaike information criteria (AIC) were compared between models. Correlations between subject demographics and AP vertebral canal diameter were statistically insignificant at all levels. Only vertebral canal cross‐sectional area, and axial and sagittal vertebral canal diameter were found to be statistically different between cases and controls at all levels (all p < .05). Both males and females were affected by DSS and there was no skipping of generation, which highly suggested DSS followed an autosomal dominant inheritance pattern. After accounting for multilevel DSS, there was a drop of more than 10 in AIC and some variances were also explained within families. This is the first study that suggests multilevel lumbar DSS to have an autosomal dominant inheritance pattern. Within families with a background of DSS, subjects had a smaller canal size, contributed by shortened axial and sagittal AP vertebral canal diameter, and smaller canal cross‐sectional area.

Incidence and Skeletal Features of Developmental Cervical and Lumbar Spinal Stenosis

“…Kasai et al [ 10 ] studied the physical characteristics of patients with DCSS and reported on the small inter inner canthal distance on the face. Cheung et al [ 11 ] and Lai et al [ 12 ] recently proposed that DLSS may be a multifactor hereditary disease similar to hypertension, diabetes, cancer, or dementia. As a result, we concentrated on height, head size, face shape, and upper limb length as physical features that are easily influenced by genetic information, and we investigated skeletal features other than the spine in people with DCSS and DLSS.…”

Prevalence and Definition of Multilevel Lumbar Developmental Spinal Stenosis

“…As DSS is considered to be a developmental event, 6 multilevel stenosis is expected and these patients are prone to developing neural compression at multiple levels. 7 - 9 This contributes to a high risk of reoperation up to 22% if levels with DSS are not decompressed in the initial surgery.…”