CRASH Syndrome: Clinical Spectrum of Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraparesis and Hydrocephalus Due to Mutations in One Single Gene, L1

1995 ◽  
Vol 3 (5) ◽  
pp. 273-284 ◽  
Author(s):  
Erik Fransen ◽  
Vance Lemmon ◽  
Guy Van Camp ◽  
Lieve Vits ◽  
Paul Coucke ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Single Gene ◽  
Spastic Paraparesis ◽  
Clinical Spectrum ◽  
Adducted Thumbs

scholarly journals Hereditary spastic paraplegia associated with thin corpus callosum

2001 ◽  
Vol 59 (3B) ◽  
pp. 790-792 ◽  
Author(s):  
Hélio A. Ghizoni Teive ◽  
Fabio Massaiti Iwamoto ◽  
Marcus Vinícius Della Coletta ◽  
Carlos Henrique Camargo ◽  
Ruth Danielle Bezerra ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Recessive ◽  
Spastic Paraparesis ◽  
Japanese Patients ◽  
Genetic Profile ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum ◽  
Mental Deterioration ◽  
Magnetic Resonance Imaging Mri

Autosomal recessive hereditary spastic paraplegia (AR-HSP) associated with thin corpus callosum was recently described in Japan, and most families were linked to chromosome 15q13-15. We report two patients from two different Brazilian families with progressive gait disturbance starting at the second decade of life, spastic paraparesis, and mental deterioration. One patient presented cerebellar ataxia. Magnetic resonance imaging (MRI) of the head of both patients showed a thin corpus callosum. AR-HSP with a thin corpus callosum is a rare disorder, mainly described in Japanese patients. We found only 4 Caucasian families with AR-HSP with thin corpus callosum described in the literature. Further studies including additional Caucasian families of AR-HSP with thin corpus callosum are required to delineate the genetic profile of this syndrome in occidental countries.

scholarly journals Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum

2011 ◽  
Vol 54 (1) ◽  
pp. 82-85 ◽  
Author(s):  
Alice Abdel Aleem ◽  
Nourhan Abu-Shahba ◽  
Dominika Swistun ◽  
Jennifer Silhavy ◽  
Stephanie L. Bielas ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Gene Mutations ◽  
Clinical Spectrum ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum

scholarly journals Agenesis and Hypomyelination of Corpus Callosum in Mice Lacking Nsun5, an RNA Methyltransferase

Cells ◽  
2019 ◽  
Vol 8 (6) ◽  
pp. 552 ◽  
Author(s):  
Zihao Yuan ◽  
Peipei Chen ◽  
Tingting Zhang ◽  
Bin Shen ◽  
Ling Chen
Keyword(s):  
Corpus Callosum ◽  
Gene Knockout ◽  
Single Gene ◽  
Cognitive Disorder ◽  
Cell Cycle Exit ◽  
Wild Type ◽  
Radial Glial Cells ◽  
Protein Levels ◽  
Radial Glial ◽  
Oligodendrocyte Precursor

Williams-Beuren syndrome (WBS) is caused by microdeletions of 28 genes and is characterized by cognitive disorder and hypotrophic corpus callosum (CC). Nsun5 gene, which encodes cytosine-5 RNA methyltransferase, is located in the deletion loci of WBS. We have reported that single-gene knockout of Nsun5 (Nsun5-KO) in mice impairs spatial cognition. Herein, we report that postnatal day (PND) 60 Nsun5-KO mice showed the volumetric reduction of CC with a decline in the number of myelinated axons and loose myelin sheath. Nsun5 was highly expressed in callosal oligodendrocyte precursor cells (OPCs) and oligodendrocytes (OLs) from PND7 to PND28. The numbers of OPCs and OLs in CC of PND7-28 Nsun5-KO mice were significantly reduced compared to wild-type littermates. Immunohistochemistry and Western blot analyses of myelin basic protein (MBP) showed the hypomyelination in the CC of PND28 Nsun5-KO mice. The Nsun5 deletion suppressed the proliferation of OPCs but did not affect transition of radial glial cells into OPCs or cell cycle exit of OPCs. The protein levels, rather than transcriptional levels, of CDK1, CDK2 and Cdc42 in the CC of PND7 and PND14 Nsun5-KO mice were reduced. These findings point to the involvement of Nsun5 deletion in agenesis of CC observed in WBS.

SPG11 compound mutations in spastic paraparesis with thin corpus callosum

Neurology ◽  
2008 ◽  
Vol 71 (5) ◽  
pp. 332-336 ◽  
Author(s):  
L. Samaranch ◽  
M. Riverol ◽  
J. C. Masdeu ◽  
E. Lorenzo ◽  
J. M. Vidal-Taboada ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Spastic Paraparesis ◽  
Thin Corpus Callosum

Mutations inFA2Hin three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis

2014 ◽  
Vol 88 (1) ◽  
pp. 95-97 ◽  
Author(s):  
M. S. Zaki ◽  
L. Selim ◽  
L. Mansour ◽  
I. G. Mahmoud ◽  
A. G. Fenstermaker ◽  
...  
Keyword(s):  
Spastic Paraparesis ◽  
Clinical Spectrum ◽  
Hereditary Spastic Paraparesis

Novel ABCD1 Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum

2018 ◽  
Vol 18 (2-3) ◽  
pp. 156-164 ◽  
Author(s):  
Yusen Qiu ◽  
Ling Xin ◽  
Yuyao Wang ◽  
Yanyan Yu ◽  
Keji Zou ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Exome Sequencing ◽  
Gene Mutation ◽  
Whole Exome Sequencing ◽  
Index Case ◽  
Spastic Paraparesis ◽  
Clinical Manifestations ◽  
Whole Exome ◽  
Cerebral Mri ◽  
Abcd1 Gene

Background: Adult adrenomyeloneuropathy (AMN) is caused by mutations in the ABCD1 gene. Some pure AMN patients develop cerebral demyelination late in life. However, hypoplasia and agenesis of the corpus callosum (CC) has never been reported in AMN patients. Objective: To describe a new clinical variant of AMN that is possibly caused by a novel ABCD1 gene mutation. Methods: A total of 10 members in an X-linked inherited family were examined. The age at onset, progression of disability, and clinical manifestations were collected. Blood tests of the index case were conducted in an academic hospital. Cerebral and spinal MRI was performed in 4 affected members using a Siemens 3.0-T or Hitachi 1.0-T MR scanner. Whole-exome sequencing was conducted in the index case, which was subsequently validated by Sanger sequencing in the family. Results: The patients displayed typical degenerative spastic paraparesis and peripheral sensorimotor neuropathy with some intrafamilial variations. In addition to neurological deficits, all male patients displayed alopecia since adolescence. Furthermore, an increase in plasma long-chain fatty acids was observed. Based on these presentations, adult AMN was diagnosed for the patients. Intriguingly, cerebral MRI showed multiple types of hypoplasia and agenesis of the CC including anterior remnant CC agenesis, truncated corpus and splenium, anterior remnant CC agenesis along with thin corpus and splenium. Whole-exome sequencing revealed a nonsense mutation (c.231G>A) which results in a truncated protein product (p.W77X) that might be nonfunctional. No other mutations associated with alopecia or hypoplasia and agenesis of the CC were identified in the exome-sequencing database. Conclusion: In addition to the typical symptoms such as spastic myelopathy, cognitive impairment, mixed neuropathy, and alopecia, AMN patients can also display hypoplasia and agenesis of the CC, which was not described in the other AMN patients reported before.

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