Obesity has become a major worldwide challenge to public health, owing to an interaction
between the Western 'obesogenic'environment and a strong genetic contribution. Recent …

Background Most reported patients carrying GNAO1 mutations showed a severe phenotype
characterized by early‐onset epileptic encephalopathy and/or chorea. Objective The aim …

Background Heterozygous GAA expansions in the FGF14 gene have been related to
autosomal dominant cerebellar ataxia (SCA27B‐MIM: 620174). Whether they represent a …

Background Cockayne syndrome (CS) is a rare, autosomal recessive multisystem disorder
characterised by prenatal or postnatal growth failure, progressive neurological dysfunction …

X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by
mutations in the MTM1 gene located on the X chromosome. A majority of affected males die …

Background Friedreich ataxia (FRDA), the most common form of recessive ataxia, is due to
reduced levels of frataxin, a highly conserved mitochondrial iron-chaperone involved in iron …

Infantile striatonigral degeneration is caused by a homozygous variant of the nuclear‐pore
complex (NPC) gene NUP62, involved in nucleo‐cytoplasmic trafficking. By querying …

Background Deficient nucleotide excision repair (NER) activity causes a variety of
autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre …

Background STUB1 has been first associated with autosomal recessive (SCAR16, MIM#
615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic …

Background Despite recent progress in the field of genetics, sporadic late-onset (> 40 years)
cerebellar ataxia (SLOCA) etiology remains frequently elusive, while the optimal diagnostic …