Related Experiment Video

Updated: Feb 1, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy

Regina Kropatsch^1,2, Helena M Schmidt¹, Pia Buttkereit¹

¹Department of Human Genetics, Ruhr University, Universitätsstrasse 150, 44801, Bochum, Germany.

|December 12, 2018

Abstract

Introduction:

Mutations in the BICD2 gene are causative for an autosomal dominant form of spinal muscular atrophy (SMALED2). Further, BICD2 mutations have been implicated in hereditary spastic paraplegia (HSP), but only very few such patients have been described. In this report we aimed to investigate the frequency of BICD2 mutations in patients with HSP and hereditary motor and sensory neuropathy (HMSN) who were negative for the most common known genetic causes.

Methods:

The cohorts comprised 171 HSP and 189 HMSN patients. Mutational analysis was performed with high-resolution melting analysis followed by Sanger sequencing.

Results:

In both cohorts, we found no known or likely pathogenic mutations in the BICD2 gene.

Discussion:

BICD2 mutations appear rather unlikely to cause a phenotype of HMSN and are a very rare cause of the HSP phenotype. Muscle Nerve 59:484-486, 2019.

Keywords:

BICD2 HMSN HSP SMALED2 high-resolution melting analysis

More Related Videos

Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia

Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia

Published on: February 9, 2020

Preparation of Aplysia Sensory-motor Neuronal Cell Cultures

Preparation of Aplysia Sensory-motor Neuronal Cell Cultures

Published on: June 8, 2009

Related Concept Videos

Motor and Sensory Areas of the Cortex

Motor and Sensory Areas of the Cortex

The cerebral cortex, the brain's outermost layer, is pivotal in processing complex cognitive tasks, emotions, and various sensory inputs and executing voluntary motor activities. This intricate structure is divided into three primary functional areas: the motor areas, sensory areas, and association areas.
Motor Areas
The motor areas located in the frontal lobe are central to controlling voluntary movements. This region is further subdivided into the primary motor cortex and the premotor cortex....

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

What is a Sensory System?

What is a Sensory System?

Sensory systems detect stimuli—such as light and sound waves—and transduce them into neural signals that can be interpreted by the nervous system. In addition to external stimuli detected by the senses, some sensory systems detect internal stimuli—such as the proprioceptors in muscles and tendons that send feedback about limb position.

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).

Articles linked to this work by shared authors, journal, and citation graph.

Optical genome mapping improves structural variant detection and characterization in syndromic and neurogenetic disorders.

Human genetics·2026

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.

American journal of human genetics·2026

Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

EFNB3 Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder.

Movement disorders : official journal of the Movement Disorder Society·2025

The Endocrine Chameleon: Expanding the Phenotype of Pseudohypoparathyroidism 1A in Infancy.

Hormone research in paediatrics·2025

Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy.

International journal of molecular sciences·2024

See all related articles