Murine Models of Autosomal Recessive Hereditary Spastic Paraplegia

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.

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Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia, cross section hospital base study

Journal of the Neurological Sciences ◽

10.1016/j.jns.2022.120144 ◽

2022 ◽

pp. 120144

Author(s):

Nouf Alfaidi ◽

Turki Sobahy ◽

Qurban Ali ◽

Youssef Al Said ◽

Gulzar Karim ◽

...

Keyword(s):

Saudi Arabia ◽

Corpus Callosum ◽

Cross Section ◽

Visual Evoked Potentials ◽

Hereditary Spastic Paraplegia ◽

Autosomal Recessive ◽

Pattern Reversal ◽

Spastic Paraplegia ◽

Thin Corpus Callosum ◽

Base Study

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Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia

Molecular and Cellular Probes ◽

10.1016/j.mcp.2015.12.001 ◽

2016 ◽

Vol 30 (1) ◽

pp. 53-55 ◽

Cited By ~ 2

Author(s):

Sarah F. Schubert ◽

Sabine Hoffjan ◽

Gabriele Dekomien

Keyword(s):

Hereditary Spastic Paraplegia ◽

Autosomal Recessive ◽

Mutational Analysis ◽

Spastic Paraplegia

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Hereditary spastic paraplegia associated with thin corpus callosum

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2001000500025 ◽

2001 ◽

Vol 59 (3B) ◽

pp. 790-792 ◽

Cited By ~ 10

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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