Autosomal recessive spastic paraplegia with hypoplastic corpus callosum, multisystem degeneration and ubiquitinated eosinophilic granules

2001 ◽  
Vol 101 (1) ◽  
pp. 69-73 ◽  
Author(s):  
Koichi Wakabayashi ◽  
Hisashi Kobayashi ◽  
Sari Kawasaki ◽  
Hiroshi Kondo ◽  
Hitoshi Takahashi
Keyword(s):  
Corpus Callosum ◽  
Autosomal Recessive ◽  
Spastic Paraplegia ◽  
Multisystem Degeneration

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 Hereditary spastic paraplegia:Pathogenesis and pathophysiology

2018 ◽  
pp. 1-13
Author(s):  
Akgun Olmez ◽  
Haluk Topaloglu
Keyword(s):  
Genetic Testing ◽  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum ◽  
Hereditary Spastic Paraplegias ◽  
Recessive Type ◽  
Mitochondrial Functions

Hereditary spastic paraplegias constitute a larger group of disorders than expected. Autosomal dominant types are mainly composed of SPAST, Atlastin (SPG3A) and REEP1 Genetic testing is suggested mainly for these genes. The most common autosomal recessive type is SPG11, hereditary spastic paraplegia with thin corpus callosum, but SPG15 shares the same clinical features with SPG11. Genetic testing should be done for both if thin corpus callosum is present in patients. How different genes with many different biological functions, including axonal transport, mitochondrial functions, fatty acid and cholesterol pathways and DNA repair defects, cause hereditary spastic paraplegia is still unknown.

Further evidence thatDDHD2gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum

2014 ◽  
Vol 21 (3) ◽  
pp. e25-e26 ◽  
Author(s):  
A. Magariello ◽  
L. Citrigno ◽  
S. Zuchner ◽  
M. Gonzalez ◽  
A. Patitucci ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Recessive ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum
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