autosomal recessive Spastic paraplegia 11

Autosomal recessive hereditary spastic paraplegia, complicated with a thin corpus callosum

Also Known As:

Spastic paraplegia 11, autosomal recessive; Autosomal Recessive Spastic Paraplegia Complicated with Thin Corpus Callosum; Autosomal Recessive Spastic Paraplegia with Mental Impairment and Thin Corpus Callosum; Hsp-Tcc; Spastic Paraplegia Type 11; Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum; Spastic Paraplegia, Autosomal Recessive, with Mental Impairment and Thin Corpus Callosum; Spg11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum

Networked: 6 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Proteostasis Deficiencies

Experts

1.	Shen, Lu: 2 articles (12/2008 - 12/2007)
2.	Tang, Bei-sha: 2 articles (12/2008 - 12/2007)
3.	Xia, Kun: 2 articles (12/2008 - 12/2007)
4.	Furuya, Hirokazu: 1 article (08/2021)
5.	Hamasaki, Hideomi: 1 article (08/2021)
6.	Honda, Hiroyuki: 1 article (08/2021)
7.	Iwaki, Toru: 1 article (08/2021)
8.	Mori, Shinichiro: 1 article (08/2021)
9.	Sasagasako, Naokazu: 1 article (08/2021)
10.	Suzuki, Satoshi O: 1 article (08/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to autosomal recessive Spastic paraplegia 11:

1.	Protons (Proton)IBA 12/01/2006 - "To study the extent of axonal involvement, we performed localized proton magnetic resonance spectroscopy (MRS) of the cerebral WM and cortical grey matter (GM) in a patient with HSP-TCC at 20 and 25 years of age. "
2.	Nonsense Codon (Nonsense Mutation)IBA 12/15/2008 - "We identified 10 novel and one known mutations in our 8 HSP-TCC families, which were two nonsense mutations (c.5977C>T/p.Q1993X, c.4668T>A/p.Y1556X), three small deletions (c.6898_6899delCT/p.L2300AfsX2338, c.3719_3720delTA/p.I1240VfsX263, c.733_734delAT/p.M245VfsX246), four small insertions (c.7088_7089insATTA/p.Y2363X, c.2163_2164insT/p.I722YfsX731, c.7101_7102insT/p.K2368X, c.6790_6791insC/p.L2264PfsX2339), one deletion/insertion (c.654_655delinsG/p.S218RfsX219), and one splice mutation (c.7151+4_7151+7delAGTA/p.K2384fsX2386). "
3.	Proteins (Proteins, Gene)FDA Link 06/15/2011 - "SPG11, the most frequent gene associated with HSP-TCC, encodes spatacsin, a protein of unknown function. "
4.	DNA-Binding Proteins (DNA Binding Protein)IBA 08/01/2021 - "Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11."
5.	DNA (Deoxyribonucleic Acid)IBA 12/01/2007 - "DNA samples from 5 HSP-TCC families were screened for mutations in AK128197, MGC14798, HH114, MEIS2, MGC35118, SPRED1, AK128458, FLJ38426, RASGRP1 and AK093014 on chromosome 15q13-15 between microsatellites D15S971 and D15S1012 by polymerase chain reaction, direct sequencing and cosegreagation analysis. "

Therapies and Procedures

1.	Surgical Instruments (Clip) 01/01/2009 - "Abnormal MRI signal in the region of the forceps minor of the corpus callosum is a characteristic early imaging finding of HSP-TCC with SPG11 mutations."