Table 1.

Non‐coding repeat expansion disorders

Overview of key features of all non‐coding repeat expansion disorders. Clinical features include age at onset (i.e., the main life phase(s)) and phenotypic presentation(s). Genetic features include inheritance pattern, gene containing the repeat expansion, location of the repeat in the respective gene, and sequence of the repeat. Data regarding repeat length include repeat length in healthy individuals, unambiguously pathogenic repeat lengths, and correlation between repeat length and phenotype. For each disease, all theoretical RAN proteins are described, both in sense and in antisense direction. Regarding possible mechanisms, rRBPs implicated in the disease are listed.

Abbreviations: AD, autosomal dominant; FXTAS, fragile X tremor ataxia syndrome; HDL, Huntington disease‐like; MND, motor neuron degeneration; rRBPs, repeat RNA‐binding proteins; SCA, spinocerebellar ataxia; XL, X‐linked.

Complex pentanucleotide (TAGAA, TAAAA, TAAAATAGAA).

“alteration” of function.

Impurity of repeat (associated with seizures).