Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

12 Sept 2019

Abstract excerpt

Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis of clinical, imaging and molecular data of 156 patients from 101 families. Enrolled...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Hereditary Neurological Disorders
Share to Neurogenetic and Muscular Disorders Research
Share to Neurological diseases and metabolism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32979048
DOI: 10.1093/brain/awz307

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegiaPMID 32979048Read ↗

Clinical and genetic characterization of AP4B1-associated SPG47.Semantic proximity Read ↗

AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.Semantic proximity Read ↗

Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.Semantic proximity Read ↗

Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation.Semantic proximity Read ↗

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.Semantic proximity Read ↗

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.Semantic proximity Read ↗

Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients.Semantic proximity Read ↗

Childhood-onset hereditary spastic paraplegia and its treatable mimics.Semantic proximity Read ↗

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disabilitySemantic proximity Read ↗

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.Semantic proximity Read ↗

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein traffickingSemantic proximity Read ↗

A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.