A novel familial prion disease causing pan-autonomic-sensory neuropathy and cognitive impairment

European Journal of Neurology

Volumn 20, Issue 5, 2013, Pages

  Matsuzono, K ^a   Ikeda, Y ^a   Liu, W ^a   Kurata, T ^a   Deguchi, S ^a   Deguchi, K ^a   Abe, K ^a  

^a OKAYAMA UNIVERSITY   (Japan)

Author keywords

2 bp deletion in codon 178; Familial case; HSAN; Novel gene mutation; Pan autonomic failure; Prion disease; Sensory neuropathy; Stop codon at codon 195

Indexed keywords

ENOLASE; PROTEIN 14 3 3; RESTRICTION ENDONUCLEASE; TAU PROTEIN;

ADULT; ANAMNESIS; AREFLEXIA; AUTONOMIC DYSFUNCTION; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; HYPOALGESIA; LETTER; MILD COGNITIVE IMPAIRMENT; MINI MENTAL STATE EXAMINATION; MUSCLE ACTION POTENTIAL; NERVE BIOPSY; NEUROPATHY; ORTHOSTATIC HYPOTENSION; OUTCOME ASSESSMENT; PRION DISEASE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN CEREBROSPINAL FLUID LEVEL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SENSORY NEUROPATHY; SURAL NERVE; URINE RETENTION; VIRUS GENE;

ADULT; AUTONOMIC NERVOUS SYSTEM DISEASES; COGNITION DISORDERS; FEMALE; GENE DELETION; HUMANS; PERIPHERAL NERVOUS SYSTEM DISEASES; PRION DISEASES;

EID: 84876329450     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/ene.12089     Document Type: Letter

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