Neuromuscul Disord. 2009 Apr;19(4):279-87. Epub 2009 Mar 21.

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22.

Butterfield RJ, Ramachandran D, Hasstedt SJ, Otterud BE, Leppert MF, Swoboda KJ, Flanigan KM.

Source

Department of Neurology, University of Utah, Salt Lake City, UT 84112, USA.

Abstract

We describe a novel form of juvenile recessive ALS (JRALS) affecting four of six offspring from a consanguineous first cousin marriage. The syndrome is characterized by early and prominent upper motor neuron signs, along with striking amyotrophy of the upper and lower limbs and bulbar involvement. After excluding linkage to loci with known association to ALS and other motor neuron diseases, we used a homozygosity mapping approach to identify loci on chromosomes 6p25 and 21q22, each with an equal probability of linkage to the trait (with a LOD score=3.1, the maximum possible given the family structure). Mutation analysis of seven candidate genes that are expressed in the CNS or have roles in neuronal function did not reveal any pathogenic mutations. Identification of additional families will help to distinguish between which of the two autosomal loci contains the disease-causing gene, or whether this is a digenic trait.

PMID:: 19318250; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Save items

Related citations in PubMed

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. [Arch Neurol. 2010]
Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
Gijselinck I, Engelborghs S, Maes G, Cuijt I, Peeters K, Mattheijssens M, Joris G, Cras P, Martin JJ, De Deyn PP, et al. Arch Neurol. 2010 May; 67(5):606-16.
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. [Neurology. 2008]
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.
Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH. Neurology. 2008 Jul 22; 71(4):248-52. Epub 2008 May 7.
A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36. [Hum Genet. 2007]
A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36.
Gopinath S, Blair IP, Kennerson ML, Durnall JC, Nicholson GA. Hum Genet. 2007 Jun; 121(5):559-64. Epub 2007 Mar 13.
Review Upper motor neuron and extra-motor neuron involvement in amyotrophic lateral sclerosis: a clinical and brain imaging review. [Neuromuscul Disord. 2009]
Review Upper motor neuron and extra-motor neuron involvement in amyotrophic lateral sclerosis: a clinical and brain imaging review.
van der Graaff MM, de Jong JM, Baas F, de Visser M. Neuromuscul Disord. 2009 Jan; 19(1):53-8. Epub 2008 Dec 12.
Review Genetic factors in the early diagnosis of ALS. [Amyotroph Lateral Scler Other ...]
Review Genetic factors in the early diagnosis of ALS.
Andersen PM. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Mar; 1 Suppl 1:S31-42.

See reviews... See all...

Recent activity

Clear Turn Off Turn On

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22.
A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22.
Neuromuscul Disord. 2009 Apr ;19(4):279-87. Epub 2009 Mar 21 .

PubMed
Engineering of synthetic mammalian gene networks.
Engineering of synthetic mammalian gene networks.
Chem Biol. 2009 Mar 27 ;16(3):287-97.

PubMed
Hetero-oligomerization of reggie-1/flotillin-2 and reggie-2/flotillin-1 is requi...
Hetero-oligomerization of reggie-1/flotillin-2 and reggie-2/flotillin-1 is required for their endocytosis.
Cell Signal. 2009 Aug ;21(8):1287-97. Epub 2009 Mar 24 .

PubMed
Screening colonoscopy for colorectal cancer: imperfect but still essential.
Screening colonoscopy for colorectal cancer: imperfect but still essential.
Gastroenterology. 2009 May ;136(5):1827-8. Epub 2009 Mar 21 .

PubMed
Specificity of smooth pursuit eye movement and visual fixation abnormalities in ...
Specificity of smooth pursuit eye movement and visual fixation abnormalities in schizophrenia. Comparison to mania and normal controls.
Schizophr Res. 1991 Sep ;5(2):135-44.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22.

Source

Abstract

Publication Types, MeSH Terms, Grant Support

Publication Types

MeSH Terms

Grant Support

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information