Complicated form of autosomal recessive hereditary spastic paraplegia is also linked to chromosome 8p: further evidence of genetic heterogeneity

1997 ◽  
Vol 7 (6-7) ◽  
pp. 468
Author(s):  
H. Erdem ◽  
H. Topaloglu ◽  
A.N. Akarsu ◽  
M. Topçu ◽  
K. Gücüyener ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Recessive ◽  
Spastic Paraplegia ◽  
Complicated Form ◽  
Chromosome 8P

scholarly journals Hereditary spastic paraplegia associated with a rare endoplasmic reticulum lipid raft-associated protein 2 mutation

2020 ◽  
Vol 7 (10) ◽  
pp. 2077
Author(s):  
Sai Chandar Dudipala ◽  
Naveen Reddy Cheruku ◽  
Krishna Chaithanya Battu
Keyword(s):  
Endoplasmic Reticulum ◽  
Cerebral Palsy ◽  
Lipid Raft ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Recessive ◽  
Adult Population ◽  
Complex Form ◽  
Spastic Paraplegia ◽  
Childhood Onset ◽  
Exonic Deletion

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurological disorders that are characterized by progressive spasticity of the lower extremities. It can present as pure form or complex form. It can be present from infancy to adulthood, but majority in adult population. Childhood onset HSP must be differentiated from common conditions like cerebral palsy, neurodegenerative disorders and metabolic disorders. Many patients with pediatric HSP are mistakenly diagnosed with cerebral palsy. In children with spastic paraplegia in whom no acquired cause identified, HSP should be considered. Here we diagnosed a 6-year-old boy with HSP who presented with progressive spastic paraplegia, intellectual disability, seizures, joint contractures and cataract. His genetic study revealed exonic deletion of endoplasmic reticulum lipid raft-associated protein gene, which is associated with complicated Autosomal recessive HSP 18 (SPG18). HSP 18 was rarely described in literature.

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

2010 ◽  
Vol 31 (4) ◽  
pp. E1251-E1260 ◽  
Author(s):  
Katherine J. Dick ◽  
Matthias Eckhardt ◽  
Coro Paisán-Ruiz ◽  
Aisha Alkhayat Alshehhi ◽  
Christos Proukakis ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Complicated Form

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.

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