A new Thr49Pro transthyretin gene mutation associated with leptomeningeal amyloidosis

Journal of the Neurological Sciences

Volumn 272, Issue 1-2, 2008, Pages 186-190

  Nakagawa, Kazuma ^a   Sheikh, Sarah I ^a   Snuderl, Matija ^a   Frosch, Matthew P ^a   Greenberg, Steven M ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Familial amyloid polyneuropathy; Hereditary leptomeningeal TTR amyloidosis; Oculoleptomeningeal amyloidosis; Transthyretin

Indexed keywords

GADOLINIUM; PREALBUMIN; PROLINE; THREONINE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; AMYLOIDOSIS; APHASIA; ARTICLE; BRAIN BIOPSY; BRAIN BLOOD VESSEL; CASE REPORT; CAUDA EQUINA; CODON; DNA SEQUENCE; ELECTROENCEPHALOGRAM; GENE MUTATION; HEADACHE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LEPTOMENINGEAL AMYLOIDOSIS; MALE; MEMORY DISORDER; MENINGEAL BIOPSY; MUSCLE STIFFNESS; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PROPRIOCEPTION; PROTEIN CEREBROSPINAL FLUID LEVEL; RECURRENT DISEASE; SHORT TERM MEMORY;

AMYLOIDOSIS; DNA MUTATIONAL ANALYSIS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENINGES; MIDDLE AGED; MUTATION; PREALBUMIN; PROLINE; THREONINE;

EID: 48349135202     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2008.05.014     Document Type: Article

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