scholarly journals Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Brain ◽  
2007 ◽  
Vol 131 (3) ◽  
pp. 772-784 ◽  
Author(s):  
Giovanni Stevanin ◽  
Hamid Azzedine ◽  
Paola Denora ◽  
Amir Boukhris ◽  
Meriem Tazir ◽  
...  
2005 ◽  
Vol 66 (2) ◽  
pp. 271-276 ◽  
Author(s):  
Johannes H. van der Kolk ◽  
Kim E. P. M. Rijnen ◽  
Francoise Rey ◽  
Ellen de Graaf-Roelfsema ◽  
Guy C. M. Grinwis ◽  
...  

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 ◽  
...  

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.


1996 ◽  
Vol 16 (23) ◽  
pp. 7574-7582 ◽  
Author(s):  
Jeffrey T. Henderson ◽  
Mohammed Javaheri ◽  
Susan Kopko ◽  
John C. Roder

Brain ◽  
2016 ◽  
pp. aww061 ◽  
Author(s):  
Paola S. Denora ◽  
Katrien Smets ◽  
Federica Zolfanelli ◽  
Chantal Ceuterick-de Groote ◽  
Carlo Casali ◽  
...  

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