Movement disorders : official journal of the Movement Disorder Society
July 25, 2026 · via Europe PMC
KIF1A-Associated Neurological Disorder (KAND): Spectrum of Movement and Motor Disorders in a Cohort of 51 Patients.
Bernardi K, Ribeiro G, Battaglia N, +11 more, Ebrahimi-Fakhari D.
AI summary — for doctors, generated from the abstract only
KIF1A-associated neurological disorder presents with developmental delay, progressive spasticity and loss of ambulation over time.
What was studied
Cross-sectional study of 51 individuals with pathogenic KIF1A variants using standardized motor scales.
Key findings
- Global developmental delay occurred in 96.1% and early hypotonia in 62.7%.
- Progressive spasticity occurred in 72.5% and lower limb weakness in 88.2%.
- 62.7% walked independently, but only 31.4% still did at last evaluation; p.Glu253Lys had the most severe phenotype.
Clinical relevance
Helps with prognosis, counseling and trial design.
Who should care
Limitations
Small cross-sectional cohort without longitudinal tracking.
Anticipate progressive spasticity and loss of walking, and counsel by genotype.
This is an AI-generated summary of the published abstract, not a clinical recommendation. It may not reflect the full text or subsequent updates — verify against the original source before acting on it.
Abstract
Background
KIF1A-associated neurological disorder (KAND) encompasses a broad neurodevelopmental and neurodegenerative spectrum in which motor and movement disorders are common but incompletely defined.
Objectives
To systematically characterize motor and movement disorder phenotypes in KAND.
Methods
In this cross-sectional study, 51 individuals with likely-pathogenic or pathogenic KIF1A variants underwent standardized neurological assessment using the Spastic Paraplegia Rating Scale (SPRS), SPATAX disability scale, Gross Motor Function Classification System (GMFCS), and Modified Ashworth Scale.
Results
A history of global developmental delay was present in 96.1% and neonatal or infantile hypotonia in 62.7%. Progressive spasticity occurred in 72.5%, predominantly affecting the lower extremities and correlated with age (β = 0.45, odds ratio [OR] = 1.56, 95% confidence intervals [95% CI] 1.09-2.25, P = 0.016). Lower extremity weakness was nearly universal (88.2%) and inversely related with age (β = -0.08, OR = 0.93, 95% CI 0.86-0.99, P = 0.032). Independent walking was achieved by 62.7% at a median age of 24 months, but only 31.4% retained independent ambulation at last evaluation. Movement disorders included motor stereotypies (43.1%), ataxia (19.6%), action tremor (15.6%), and dystonia (3.9%). Cerebellar signs were present in 37.2%. The p.Glu253Lys variant was associated with the most severe phenotype.
Conclusions
KAND encompasses a continuous spectrum of motor and movement disorders that integrates developmental and neurodegenerative features. These findings inform clinical management, genetic counseling, and the design of future clinical trials. © 2026 International Parkinson and Movement Disorder Society.
DOI
10.1002/mds.70420
PMID
42500835
Research metadata (titles, abstracts, authors, publication dates) is sourced from Europe PMC, which aggregates content from PubMed/MEDLINE, PubMed Central, and other providers under the U.S. National Library of Medicine (NLM/NCBI). NLM does not claim copyright on abstracts; the original journal publishers or authors may hold rights to the full articles. AI-generated summaries are derived only from the abstract, never the full text, and are always labeled as AI-generated.
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