Variant Alzheimer's disease with spastic paraparesis and supranuclear gaze palsy

Canadian Journal of Neurological Sciences

Volumn 40, Issue 2, 2013, Pages 249-251

  Sinha, Namita ^a   Grimes, David ^b   Tokuhiro, Shinya ^c   Sato, Christine ^c   Rogaeva, Ekaterina ^c   Woulfe, John ^b  

^a QUEEN ELIZABETH II HEALTH SCIENCES CENTRE   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; CD68 ANTIGEN; TAU PROTEIN; UBIQUITIN;

AGED; ALZHEIMER DISEASE; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; DEATH; DYSPHAGIA; ENTORHINAL CORTEX; EXON; FAMILY HISTORY; FRONTAL CORTEX; GENE FREQUENCY; GENETIC SCREENING; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HYDROCEPHALUS; IMMUNOHISTOCHEMISTRY; INTRON; LOCUS CERULEUS; MALE; MEDICAL HISTORY; MUTATIONAL ANALYSIS; NEUROFIBRILLARY TANGLE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PEDIGREE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; SPASTIC PARESIS; SUBSTANTIA NIGRA; VARIANT ALZHEIMER DISEASE; WHITE MATTER;

EID: 84874251022     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100013822     Document Type: Article

References (5)

1. Rogaeva E. The solved and unsolved mysteries of the genetics of early-onset Alzheimer's disease. Neuromol Med. 2002;2(1): 1-10
2. Rogaeva E, Bergeron C, Sato C, et al. PS1 Alzheimer's disease family with spastic paraplegia: The search for a gene modifier. Neurology. 2003;61(7):1005-7
3. Hanein S, Martin E, Boukhris A, et al. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008;82(4):992-1002
4. O'Riordan S, McMonagle P, Janssen JC, et al. Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI whitematter abnormalities. Neurology. 2002;59(7):1108-10
5. Grewal KK, Stefanelli MG, Meijer IA, Hand CK, Rouleau GA, Ives EJ. A founder effect in three large Newfoundland families with a novel clinically variable spastic ataxia and supranuclear gaze palsy. Am J Med Genet A. 2004;131(3):249-54