Usefulness of exome sequencing in the study of spastic paraparesis and cerebellar atrophy: de novo mutation of the KIF1A gene, a new hope in prognosis

Valle, Sara; Gil, Bracho; León, María Soraya Ramiro; Menéndez, B. Martínez

doi:10.1016/j.nrleng.2018.07.007

Cited by 1 publication

(1 citation statement)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, urological abnormalities other than incontinence are observed across three patients: neurogenic bladder/bowel, double collecting system, and hydronephrosis of unspecified etiology, which can be caused by neurogenic bladder or double collecting system. While neurogenic bladder has been previously reported (Okamoto et al, 2014; Urtiaga Valle et al, 2020), a double collecting system is a novel phenotype. However, without resolving whether the hydronephrosis of unspecified etiology is caused by a double collecting system, we cannot rule out a double collecting system as an incidental finding.…”

Section: Discussionmentioning

confidence: 87%

Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases

et al. 2020

View full text Add to dashboard Cite

KIF1A is a molecular motor for membrane-bound cargo important to the development and survival of sensory neurons. KIF1A dysfunction has been associated with several Mendelian disorders with a spectrum of overlapping phenotypes, ranging from spastic paraplegia to intellectual disability. We present a novel pathogenic inframe deletion in the KIF1A molecular motor domain inherited by two affected siblings from an unaffected mother with apparent germline mosaicism. We identified eight additional cases with heterozygous, pathogenic KIF1A variants ascertained from a local data lake. Our data provide evidence for the expansion of

show abstract

Section: Discussionmentioning

confidence: 87%