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Title: Hereditary primary lateral sclerosis and progressive nonfluent aphasia
Author: 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
Keywords: Neurones motores
Malaltia de Parkinson
Esclerosi lateral amiotròfica
Motor neurons
Parkinson's disease
Amyotrophic lateral sclerosis
Issue Date: 1-May-2019
Publisher: Springer Verlag
Abstract: 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.
Note: Versió postprint del document publicat a:
It is part of: Journal of Neurology, 2019, vol. 266, num. 5, p. 1079-1090
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ISSN: 0340-5354
Appears in Collections:Articles publicats en revistes (Patologia i Terapèutica Experimental)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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