Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease

2000 ◽  
Vol 247 (11) ◽  
pp. 875-877 ◽  
Author(s):  
S. Selleri ◽  
E. Torchiana ◽  
D. Pareyson ◽  
L. Lulli ◽  
B Bertagnolio ◽  
...  
Keyword(s):  
Early Onset ◽  
Krabbe Disease ◽  
Novel Mutations

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

2011 ◽  
Vol 26 (3) ◽  
pp. 553-556 ◽  
Author(s):  
Arianna Guidubaldi ◽  
Carla Piano ◽  
Filippo M. Santorelli ◽  
Gabriella Silvestri ◽  
Martina Petracca ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Early Onset ◽  
Spastic Paraplegia ◽  
Novel Mutations

Sixth Cranial Nerve Involvement in Early Onset Krabbe Disease

2020 ◽  
Vol 51 (04) ◽  
pp. 307-308
Author(s):  
Miguel Quintas-Neves ◽  
Sofia Almeida Xavier ◽  
João Paulo Soares-Fernandes
Keyword(s):  
Early Onset ◽  
Cranial Nerve ◽  
Krabbe Disease ◽  
Cranial Nerve Involvement ◽  
Sixth Cranial Nerve ◽  
Nerve Involvement

A novel homozygous GALC mutation: Very early onset and rapidly progressive Krabbe disease

Gene ◽  
2013 ◽  
Vol 517 (1) ◽  
pp. 125-127 ◽  
Author(s):  
Fatih Kardas ◽  
Asli Subasioglu Uzak ◽  
Mohammad Arif Hossain ◽  
Norio Sakai ◽  
Mehmet Canpolat ◽  
...  
Keyword(s):  
Early Onset ◽  
Krabbe Disease

scholarly journals Identification of four novel mutations in the HNF-1A gene in Chinese early-onset and/or multiplex diabetes pedigrees

2006 ◽  
Vol 119 (13) ◽  
pp. 1072-1078 ◽  
Author(s):  
Zhen YANG ◽  
Song-hua WU ◽  
Tai-shan ZHENG ◽  
Hui-juan LU ◽  
Kun-san XIANG
Keyword(s):  
Early Onset ◽  
Novel Mutations

Pathogenic effects of novel mutations in the P‐type ATPase ATP13A2 ( PARK9 ) causing Kufor‐Rakeb syndrome, a form of early‐onset parkinsonism

2011 ◽  
Vol 32 (8) ◽  
pp. 956-964 ◽  
Author(s):  
Jin‐Sung Park ◽  
Prachi Mehta ◽  
Antony A. Cooper ◽  
David Veivers ◽  
André Heimbach ◽  
...  
Keyword(s):  
Early Onset ◽  
Novel Mutations ◽  
P Type ◽  
Pathogenic Effects

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A

2009 ◽  
Vol 19 (7) ◽  
pp. 476-480 ◽  
Author(s):  
Isabella Moroni ◽  
Michela Morbin ◽  
Micaela Milani ◽  
Claudia Ciano ◽  
Marianna Bugiani ◽  
...  
Keyword(s):  
Early Onset ◽  
Novel Mutations ◽  
Charcot Marie Tooth ◽  
Tooth Type

scholarly journals Krabbe disease: the importance of early diagnosis for prognosis

2012 ◽  
Vol 10 (2) ◽  
pp. 233-235 ◽  
Author(s):  
Tatiana Suemi Sano
Keyword(s):  
Early Diagnosis ◽  
Early Onset ◽  
Late Onset ◽  
Krabbe Disease ◽  
Globoid Cell Leukodystrophy ◽  
Nervous Systems ◽  
Clinical Forms ◽  
Peripheral Nervous Systems ◽  
Globoid Cell

Krabbe disease (globoid cell leukodystrophy) is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. The lack of this enzyme leads to the build-up of galactolipids that will promote the death of oligodendrocytes and the demyelination of the central and peripheral nervous systems. There are two clinical forms: early onset and late onset. This article reports a case of late onset Krabbe disease and discusses the importance of early diagnosis for its prognosis.

Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene

2013 ◽  
Vol 35 (6) ◽  
pp. 579-581 ◽  
Author(s):  
Shin-ichi Tokushige ◽  
Tomohiro Sonoo ◽  
Risa Maekawa ◽  
Yuichiro Shirota ◽  
Ritsuko Hanajima ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Pyramidal Tract ◽  
Krabbe Disease ◽  
Adult Onset ◽  
Novel Mutations ◽  
The Central Nervous System ◽  
Galc Gene

scholarly journals Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2

Oncotarget ◽  
2016 ◽  
Vol 7 (48) ◽  
pp. 78363-78371 ◽  
Author(s):  
Santasree Banerjee ◽  
Huishuang Chen ◽  
Hui Huang ◽  
Jing Wu ◽  
Zhiyun Yang ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Recessive ◽  
Novel Mutations

scholarly journals Cystic changes in internal capsule in early-onset Krabbe disease

2014 ◽  
Vol 2 (4) ◽  
pp. 124-125
Author(s):  
Arushi Gahlot Saini ◽  
Renu Suthar ◽  
Naveen Sankhyan ◽  
Pratibha Singhi ◽  
Sameer Vyas
Keyword(s):  
Early Onset ◽  
Internal Capsule ◽  
Krabbe Disease ◽  
Cystic Changes
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