Abstract Purpose of Review Hereditary spastic paraplegias are a genetically heterogeneous
group of neurological disorders. Patients present lower limb weakness and spasticity …

The problem of 'missing heritability'affects both common and rare diseases hindering:
discovery, diagnosis, and patient care. The 'missing heritability'concept has been mainly …

Purpose The presentation and etiology of cerebral palsy (CP) are heterogeneous.
Diagnostic evaluation can be a prolonged and expensive process that might remain …

AIM To determine which patients with cerebral palsy (CP) should undergo genetic testing,
we compared the rate of likely causative genetic variants from whole‐exome sequencing in …

Complex genetic disease mechanisms, such as structural or non-coding variants, currently
pose a substantial difficulty in frontline diagnostic tests. They thus may account for most …

Ataxia–telangiectasia (AT) is a complex neurodegenerative disease with an increased risk
for bone marrow failure and malignancy. AT is caused by biallelic loss of function variants in …

The 15q11. 2 BP1-BP2 deletion (Burnside-Butler) syndrome is emerging as the most
common cytogenetic finding in patients with neurodevelopmental or autism spectrum …

Interventions: The couple in case 1 chose to terminate the pregnancy, while the couple in
case 2 continued the pregnancy and finally delivered a male infant who presented low nasal …

Autism is a common and complex neurologic disorder whose scientific underpinnings have
begun to be established in the past decade. The essence of this breakthrough has been a …

Hereditary spastic paraplegias (HSP) are heterogeneous disorders, with more than 70
causative genes. Variants in SPAST are the most frequent genetic etiology and are …