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2019-05-01

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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/141734

Hereditary primary lateral sclerosis and progressive nonfluent aphasia

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https://doi.org/10.1007/s00415-019-09235-x

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Objective: to report a kindred with an association between hereditary primary lateral sclerosis (PLS) and progressive nonfluent aphasia. Patients and methods: six members from a kindred with 15 affected individuals spanning three generations, suffered from spasticity without muscle atrophy or fasciculation, starting in the lower limbs and spreading to the upper limbs and bulbar musculature, followed by effortful speech, nonfluent language and dementia, in 5 deceased members. Disease onset was during the sixth decade of life, or later. Cerebellar ataxia was the inaugural manifestation in two patients, and parkinsonism, in another. Results: neuropathological examination in two patients demonstrated degeneration of lateral corticospinal tracts in the spinal cord, without loss of spinal, brainstem, or cerebral motor neurons. Greater loss of corticospinal fibers at sacral and lumbar, rather than at cervical or medullary levels was demonstrated, supporting a central axonal dying-back pathogenic mechanism. Marked reduction of myelin and nerve fibers in the frontal lobes was also present. Argyrophilic grain disease and primary age-related tauopathy were found in one case each, and considered incidental findings. Genetic testing, including exome sequencing aimed at PLS, ataxia, hereditary spastic paraplegia, and frontotemporal lobe dementia, triplet-repeated primed polymerase chain reaction aimed at dominant spinocerebellar ataxias, and massive sequencing of the human genome, yielded negative results. Conclusion: a central distal axonopathy affecting the corticospinal tract, exerted a pathogenic role in the dominantly inherited PLS-progressive nonfluent aphasia association, described herein. Further molecular studies are needed to identify the causative mutation in this disease.

Matèries

Neurones motores, Malaltia de Parkinson, Esclerosi lateral amiotròfica, Afàsia

Matèries (anglès)

Motor neurons, Parkinson's disease, Amyotrophic lateral sclerosis, Aphasia

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Articles publicats en revistes (Patologia i Terapèutica Experimental)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

GAZULLA, José, FERRER, Isidro (ferrer abizanda), IZQUIERDO-ALVAREZ, Silvia, ALVAREZ, Sara, SÁNCHEZ-ALCUDIA, Rocío, BESTUÉ-CARDIEL, María, SERAL, María, BENAVENTE, Isabel, SIERRA-MARTÍNEZ, Esther, BERCIANO, José. Hereditary primary lateral sclerosis and progressive nonfluent aphasia. _Journal of Neurology_. 2019. Vol. 266, núm. 5, pàgs. 1079-1090. [consulta: 28 de gener de 2026]. ISSN: 0340-5354. [Disponible a: https://hdl.handle.net/2445/141734]

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