Full Issue

Abstract

The combined issue (Numbers 1–2–3–4) of Volume 26 of the International Journal of Neurology (1992) was dedicated to The Search for the Genetic Basis of Neurological Diseases, continuing the landmark series initiated in the previous volume. Under the editorial direction of Dr. Prof. Víctor Soriano, this issue deepened the exploration of molecular and mitochondrial genetics in neurology, reflecting the consolidation of genomic medicine as a central pillar of neuroscience in the early 1990s.

The volume opened with Benjamín B. Roa, Carlos A. García, and James R. Lupski’s seminal article on Charcot–Marie–Tooth disease type 1A (CMT1A), one of the most prevalent inherited peripheral neuropathies. The authors elucidated the molecular mechanisms of gene dosage and point mutations in the PMP22 gene, showing how duplication events and single-nucleotide alterations produce the demyelinating phenotype characteristic of CMT1A. This study exemplified the new precision made possible by DNA mapping and positional cloning techniques, and it became a key reference in medical genetics.

Buchhalter and Dichter contributed a comprehensive review on the inherited epilepsies, outlining clinical syndromes with known or suspected genetic origins and discussing the early evidence for ion channel mutations as causative factors. Their article anticipated the development of the “channelopathy” concept that would soon dominate epilepsy research.

Salvatore DiMauro and Michio Hirano, pioneers in mitochondrial medicine, presented a foundational paper on neurological diseases caused by mitochondrial DNA (mtDNA) mutations. They analyzed the molecular genetics, inheritance patterns, and pathogenic mechanisms of disorders such as MELAS, MERRF, and Leber’s hereditary optic neuropathy, emphasizing the dual control of the mitochondrial genome and its unique maternal transmission. Their review clarified the biochemical challenges of linking mtDNA mutations to tissue-specific neurological dysfunction.

The issue also included an obituary in memory of Dr. Bento P. M. Schulte, honoring his scientific contributions and editorial collaboration within the journal.

It concluded with the customary Book Reviews section and Víctor Soriano’s reflective essay “Homage to Seattle, Washington,” a personal and cultural piece connecting the city’s scientific atmosphere—particularly its biomedical innovation—with the spirit of discovery characterizing modern neurology.

This 1992 volume consolidated the IJN’s role as a witness to the molecular revolution in neuroscience, showcasing discoveries that transformed neurology from morphological diagnosis to genetic and biochemical understanding. It captured the moment when neuromuscular, epileptic, and mitochondrial disorders became part of the expanding frontier of human neurogenetics.