A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24‐q32

We updated the clinical features of a consanguineous Arab Israeli family, in which four of seven children were affected by spastic paraplegia complicated by skin pigmentary abnormalities. A genomewide linkage screen performed for the family identified a new locus (SPG23) for this form of hereditary spastic paraplegia, in an approximately 25cM region of chromosome 1q24‐q32, with a peak logarithm of odds score of 3.05. Ann Neurol 2003;54:796–803

[1]  E. Reid,et al.  Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias , 2003, Journal of medical genetics.

[2]  C. Buesa,et al.  Neuron navigator: a human gene family with homology to unc-53, a cell guidance gene from Caenorhabditis elegans. , 2002, Genomics.

[3]  M. Dalakas,et al.  Blockade of blocking antibodies in Guillain‐Barré syndromes: “Unblocking” the mystery of action of intravenous immunoglobulin , 2002, Annals of neurology.

[4]  P. Sonderegger,et al.  Axonin-1/TAG-1 Mediates Cell-Cell Adhesion by a Cis-assisted Trans-interaction* , 2002, The Journal of Biological Chemistry.

[5]  C. Moraes.  A helicase is born , 2001, Nature Genetics.

[6]  Z. Katsarou,et al.  Concurrent Validity of the Test of Nonverbal Intelligence in Parkinson's Disease Patients , 2001, The Journal of psychology.

[7]  D. Rubinsztein,et al.  A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13. , 2000, American journal of human genetics.

[8]  D. Rubinsztein,et al.  Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families. , 1999, Brain : a journal of neurology.

[9]  A. Reichert,et al.  Genetic and structural characterization of the human mitochondrial inner membrane translocase. , 1999, Journal of molecular biology.

[10]  E. Kotilŏglu,et al.  A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings , 1997, Clinical genetics.

[11]  Cécile Fizames,et al.  A comprehensive genetic map of the human genome based on 5,264 microsatellites , 1996, Nature.

[12]  G. Schütz,et al.  Correction of abnormal retinal pathways found with albinism by introduction of a functional tyrosinase gene in transgenic mice. , 1994, Developmental biology.

[13]  A A Schäffer,et al.  Avoiding recomputation in linkage analysis. , 1994, Human heredity.

[14]  Cécile Fizames,et al.  The 1993–94 Généthon human genetic linkage map , 1994, Nature Genetics.

[15]  A A Schäffer,et al.  Faster sequential genetic linkage computations. , 1993, American journal of human genetics.

[16]  M. Folstein,et al.  Population-based norms for the Mini-Mental State Examination by age and educational level. , 1993, JAMA.

[17]  G. Gyapay,et al.  A second-generation linkage map of the human genome , 1992, Nature.

[18]  N. Hankins,et al.  Prediction of Wechsler Intelligence Scale for Children-Revised Full Scale IQ from the Quick Test of Intelligence and the Test of Nonverbal Intelligence for a referred sample of children and youth. , 1988, Journal of clinical psychology.

[19]  Stephen J. Silver,et al.  Demographic Distribution of Third Factor Deficits in the Standardization Sample of the Wechsler Intelligence Scale for Children-Revised , 1988 .

[20]  A. Metzker,et al.  Spastic paraparesis, mental retardation, and cutaneous pigmentation disorder. A new syndrome. , 1985, American journal of diseases of children.

[21]  G. Lathrop,et al.  Easy calculations of lod scores and genetic risks on small computers. , 1984, American journal of human genetics.

[22]  I. Choi,et al.  Hereditary spastic paraplegia. , 1983, Yonsei medical journal.

[23]  A. Harding.  Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families. , 1981, Journal of neurology, neurosurgery, and psychiatry.

[24]  R. M. Stewart,et al.  Familial spastic paraplegia, peroneal neuropathy, and crural hypopigmentation , 1981, Neurology.

[25]  W. Mcdonald,et al.  Disordered pigmentation, spastic paraparesis and peripheral neuropathy in three siblings: a new neurocutaneous syndrome. , 1980, Journal of neurology, neurosurgery, and psychiatry.

[26]  Linda Brown,et al.  Test of Nonverbal Intelligence , 2003 .

[27]  S. Kenwrick,et al.  Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. , 2002, Human molecular genetics.

[28]  D. Fujii,et al.  Association between reported education and intellectual functioning in an ethnically diverse adult psychiatric inpatient sample. , 2002, Journal of the National Medical Association.

[29]  W. Neupert,et al.  Protein translocation into mitochondria , 1998, BioFactors.

[30]  D. Rimoin.  Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics , 1997 .

[31]  F. Meire,et al.  Waardenburg syndrome , 2020, Definitions.

[32]  A. Harding.  The hereditary ataxias and related disorders , 1984 .

[33]  Y. Hiss,et al.  Progressive spastic paraparesis, vitiligo, premature graying, and distinct facial appearance: a new genetic syndrome in 3 sibs. , 1981, American journal of medical genetics.

[34]  V. Kaloustian,et al.  Abnormalities of Pigmentation , 1979 .