Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes

Journal of Neurology

Volumn 256, Issue 5, 2009, Pages 824-826

  Brugman, Frans ^a   Scheffer, Hans ^c   Schelhaas, H Jurgen ^b   Nillesen, Willy M ^c   Wokke, John H J ^a   Van De Warrenburg, Bart P C ^b   Van Den Berg, Leonard H ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b RADBOUD UNIVERSITY   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; CYANOCOBALAMIN; DIPEPTIDYL CARBOXYPEPTIDASE; DNA; FOLIC ACID; THYROTROPIN;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BSCL2 GENE; DISEASE COURSE; DISEASE DURATION; DNA POLYMORPHISM; EXON; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENETIC SCREENING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LABORATORY TEST; LETTER; MAJOR CLINICAL STUDY; MALE; MOTOR NEURON DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PARAPLEGIN GENE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIMARY LATERAL SCLEROSIS; PRIORITY JOURNAL; SEIPIN GENE; SEROLOGY; SILVER RUSSELL SYNDROME; SPASTIN GENE; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; GTP-BINDING PROTEIN GAMMA SUBUNITS; HUMANS; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; MUTATION; POLYMORPHISM, GENETIC; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 67349192797     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-009-5009-6     Document Type: Letter

References (14)

1. M Auer-Grumbach B Schlotter-Weigel H Lochmuller G Strobl-Wildemann P Auer-Grumbach R Fischer H Offenbacher EB Zwick T Robl G Hartl HP Hartung K Wagner C Windpassinger 2005 Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation Ann Neurol 57 415 424 (Pubitemid 40343964)
2. BR Brooks RG Miller M Swash TL Munsat 2000 El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis Amyotroph Lateral Scler Other Motor Neuron Disord 1 293 299
3. F Brugman JH Wokke H Scheffer MH Versteeg EA Sistermans LH van den Berg 2005 Spastin mutations in sporadic adult-onset upper motor neuron syndromes Ann Neurol 58 865 869 (Pubitemid 41746875)
4. F Brugman H Scheffer JH Wokke WM Nillesen M de Visser E Aronica JH Veldink LH van den Berg 2008 Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes Neurology 71 1500 1505
5. Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH (2008) A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology 71:248-52
6. JK Fink 2001 Progressive spastic paraparesis: hereditary spastic paraplegia and its relation to primary and amyotrophic lateral sclerosis Semin Neurol 21 199 207 (Pubitemid 32578731)
7. JK Fink 2003 The hereditary spastic paraplegias: nine genes and counting Arch Neurol 60 1045 1049 (Pubitemid 36975789)
8. AE Harding 1981 Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families J Neurol Neurosurg Psychiatr 44 871 883 (Pubitemid 12228436)
9. D Ito N Suzuki 2007 Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases Ann Neurol 61 237 250 (Pubitemid 46557348)
10. CE Pringle AJ Hudson DG Munoz JA Kiernan WF Brown GC Ebers 1992 Primary lateral sclerosis Clinical features, neuropathology and diagnostic criteria Brain 115 495 520
11. B Rohkamm MM Reilly H Lochmuller B Schlotter-Weigel N Barisic L Schols G Nicholson D Pareyson M Laura AR Janecke G Miltenberger-Miltenyi E John C Fischer F Grill W Wakeling M Davis TR Pieber M Auer-Grumbach 2007 Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome J Neurol Sci 263 100 106 (Pubitemid 350029846)
12. S Salinas C Proukakis A Crosby TT Warner 2008 Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms Lancet Neurol 7 1127 1138
13. BP van de Warrenburg H Scheffer JJ van Eijk MH Versteeg H Kremer MJ Zwarts HJ Schelhaas BG van Engelen 2006 BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy Neuromuscul Disord 16 122 125 (Pubitemid 43190744)
14. C Windpassinger M Auer-Grumbach J Irobi H Patel E Petek G Horl R Malli JA Reed I Dierick N Verpoorten TT Warner C Proukakis BP Van den C Verellen L Van Maldergem L Merlini P De Jonghe V Timmerman AH Crosby K Wagner 2004 Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome Nat Genet 36 271 276 (Pubitemid 38282752)