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Article

An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.

Acta neuropathologica communications - 27 Nov 2019

Sundal Christina, Carmona Susana, Yhr Maria, Almström Odd, Ljungberg Maria, Hardy John, Hedberg-Oldfors Carola, Fred Åsa, Brás José, Oldfors Anders, Andersen Oluf, Guerreiro Rita

Abstract excerpt

Swedish type Hereditary Diffuse Leukoencephalopathy with Spheroids (HDLS-S) is a severe adult-onset leukoencephalopathy with the histopathological hallmark of neuraxonal degeneration with spheroids, described in a large family with a dominant inheritance pattern. The initial stage of the disease is dominated by frontal lobe symptoms that develop into a rapidly advancing encephalopathy with pyramidal, deep...

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Identifiers

PMID: 31775912
DOI: 10.1186/s40478-019-0843-y
PMCID: PMC6880494

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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