Thin corpus callosum as a diagnostic marker for hereditary spastic paraparesis due to mutations in the SPG11 gene: a case report

2017 ◽  
pp. 122-125
Author(s):  
Archana Murugan ◽  
Andrew Mallick ◽  
Laraine Dibble ◽  
Mohamed Babiker
Keyword(s):  
Case Report ◽  
Corpus Callosum ◽  
Diagnostic Marker ◽  
Spastic Paraparesis ◽  
Thin Corpus Callosum ◽  
Hereditary Spastic Paraparesis

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 An efficient multidisciplinary approach in a pregnant patient with hereditary spastic paraparesis treated by intrathecal baclofen therapy: A case report

2021 ◽  
Vol 2 (3) ◽  
Author(s):  
Fostier M ◽  
◽  
Roland V ◽  
Dereine T ◽  
Deltombe T ◽  
...  
Keyword(s):  
Case Report ◽  
Caesarean Section ◽  
Spastic Paraparesis ◽  
Pregnant Patient ◽  
Anaesthetic Management ◽  
Intrathecal Baclofen ◽  
Intrathecal Catheter ◽  
Hereditary Spastic Paraparesis ◽  
Intrathecal Baclofen Therapy ◽  
Pregnancy And Delivery

Literature regarding cases of pregnant patients with hereditary spastic paraparesis (Strumpell-Lorrain disease) and those treated by intrathecal baclofen therapy is sparse. There are currently no specific guidelines to manage pregnancy and delivery in these patients. A 42-year-old woman presented to our clinic with hereditary spastic paraparesis and was treated with intrathecal baclofen for spasticity. She conceived twice and delivered successfully by caesarean section under subarachnoid anaesthesia. The two pregnancies had favourable outcomes with no increase in spasticity and no problems encountered with the intrathecal device. In this report, we discuss the evolution of both pregnancies and the anaesthetic management for deliveries in the presence of an intrathecal catheter. Keywords: Caesarean section; case report; hereditary spastic paraparesis; intrathecal baclofen; pregnancy.

Case report: Hereditary spastic paraplegia with thin corpus callosum

2021 ◽  
Vol 429 ◽  
pp. 118892
Author(s):  
Malbora Xhelili ◽  
Altin Kuqo ◽  
Eni Reka ◽  
Eti Muharremi ◽  
Arben Rroji ◽  
...  
Keyword(s):  
Case Report ◽  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum

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

Thin corpus callosum and amyotrophy in spastic paraplegia—Case report and review of literature

2006 ◽  
Vol 108 (7) ◽  
pp. 692-698 ◽  
Author(s):  
Beate Winner ◽  
Claudia Gross ◽  
Gökhan Uyanik ◽  
Wilhelm Schulte-Mattler ◽  
Ralf Lürding ◽  
...  
Keyword(s):  
Case Report ◽  
Corpus Callosum ◽  
Review Of Literature ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum

scholarly journals NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

2017 ◽  
Vol 18 (1) ◽  
Author(s):  
Mahmoud F. Elsaid ◽  
Khalid Ibrahim ◽  
Nader Chalhoub ◽  
Ahmed Elsotouhy ◽  
Noora El Mudehki ◽  
...  
Keyword(s):  
Case Report ◽  
Corpus Callosum ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum ◽  
Splicing Variant ◽  
Phenotypic Spectrum

scholarly journals Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum

2008 ◽  
Vol 79 (5) ◽  
pp. 607-609 ◽  
Author(s):  
M-J Lee ◽  
T-W Cheng ◽  
M-S Hua ◽  
M-K Pan ◽  
J Wang ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Autosomal Recessive ◽  
Spastic Paraparesis ◽  
Thin Corpus Callosum
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