Tom 16, Nr 3 (2020)
List do Redakcji
Opublikowany online: 2020-09-29
Wyświetlenia strony
590
Wyświetlenia/pobrania artykułu
187
Podejrzenie pierwszego przypadku chorego z leukodystrofią z obecnością sferoidów aksonalnych
Pol. Przegl. Neurol 2020;16(3):192-193.
Streszczenie
Brak
Słowa kluczowe: leukodystrofiaCSF1RAARS2ALSP
Referencje
- Grabowska W, Kapica-Topczewska K, Kochanowicz J, et al. Współwystępowania choroby Parkinsona i pierwotnie postępującej postaci stwardnienia rozsianego — opis przypadku. Pol Przegl Neurol. 2020; 16(2): 117–120.
- Konno T, Kasanuki K, Ikeuchi T, et al. -related leukoencephalopathy: a major player in primary microgliopathies. Neurology. 2018; 91(24): 1092–1104.
- Sundal C, Carmona S, Yhr M, et al. An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids. Acta Neuropathol Commun. 2019; 7(1): 188.
- Zhuang LP, Liu CY, Li YX, et al. Clinical features and genetic characteristics of hereditary diffuse leukoencephalopathy with spheroids due to CSF1R mutation: a case report and literature review. Ann Transl Med. 2020; 8(1): 11.
- Wang JY, Chen SF, Zhang HQ, et al. A homozygous mutation of alanyl-transfer RNA synthetase 2 in a patient of adult-onset leukodystrophy: A case report and literature review. Brain Behav. 2019; 9(7): e01313.
- Sąsiadek M, Katulska K, Majos A, et al. Guidelines of the Polish Medical Society of radiology for the routinely used MRI protocol in patients with multiple sclerosis. Neurol Neurochir Pol. 2018; 52(6): 638–642.
- Konno T, Yoshida K, Mizuno T, et al. Clinical and genetic characterization of adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF 1R mutation. Eur J Neurol. 2017; 24(1): 37–45.
- Panda SP, Das RC, Srivastava K, et al. Psychiatric comorbidity in multiple sclerosis. Neurol Neurochir Pol. 2018; 52(6): 704–709.
- Kulhánek J, Brožová K, Hansíková H, et al. POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene. Neurol Neurochir Pol. 2019; 53(5): 369–376.
- Jurkiewicz E, Dunin-Wąsowicz D, Gieruszczak-Białek D, et al. Recessive mutations in POLR3B encoding RNA polymerase III subunit causing diffuse hypomyelination in patients with 4H leukodystrophy with polymicrogyria and cataracts. Clin Neuroradiol. 2017; 27(2): 213–220.
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