Hereditary Neurological Disorders

AI summary · may contain errors

In a United Kingdom ALS kindred, ultra-rare RUBCN p.Cys517Phe and KANK1 p.Pro1332Ala variants co-segregate with disease, with FLB scores 4.6 and 5.5.

AI summary · may contain errors

Integrated clinical, biochemical, and molecular testing in 10 Egyptian patients with spastic paraplegia identified pathogenic or likely pathogenic variants in nine disease genes, including seven novel variants.

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A novel deep intronic MFSD8 variant, NM_001371596.2:c.999-556C>G, in a CLN7 patient is linked to aberrant 98-nt pseudoexon inclusion that disrupts normal splicing.

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A P2RX2 exon-2 complex indel (NM_174873: c.278_288delinsACGTGAAGCCCCC) in a Han Chinese family disrupts splicing and markedly reduces P2X2 protein output.

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Two adult sisters with Harel-Yoon syndrome due to ATAD3A NM_001170535.3:c.1582C>T (p.Arg528Trp) had wheelchair-dependent motor impairment yet low-average IQ scores of 88 and 82.

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A human iPSC line, PNUYHi004-A, was generated from a 40-year-old Korean patient with SPG46 carrying compound heterozygous GBA2 variants, enabling study of GBA2-linked neurodegeneration.

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A novel XK c.484C > T (p.Gln162Ter) variant is linked to McLeod syndrome in a Chinese Han family, expanding the genetic and ethnic spectrum of the disease.

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A protocol enables reproducible culture of proliferative human Schwann cells from ~4-mm diagnostic sural nerve biopsies, supporting comprehensive transcriptome-based phenotype characterization.