Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: Autopsy findings

Clinical Neurology and Neurosurgery

Volumn 108, Issue 8, 2006, Pages 780-783

  Lindahl, Andrea J ^a   Lhatoo, Sam D ^a   Campbell, Malcolm J ^a   Nicholson, Garth ^b   Love, Seth ^a  

^a FRENCHAY HOSPITAL   (United Kingdom)

^b UNIVERSITY OF SYDNEY   (Australia)

Author keywords

Genetics; Hereditary neuropathy of late onset; Hereditary sensory neuropathy; Pathology; SPTLC1

Indexed keywords

GENE PRODUCT; PROTEIN; SERINE PALMITOYLTRANSFERASE SUBUNIT 1; UNCLASSIFIED DRUG;

AGED; ARTICLE; AUTOPSY; CASE REPORT; DISEASE COURSE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; HEREDITARY SENSORY NEUROPATHY TYPE I; HUMAN; HUMAN TISSUE; MUTAGENESIS; MUTATIONAL ANALYSIS; NEUROPATHOLOGY; SENSORY NEUROPATHY;

ACYLTRANSFERASES; AGED, 80 AND OVER; EXONS; FEMALE; GANGLIA, SPINAL; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MUTATION; NERVE DEGENERATION; NERVE FIBERS; NEUROLOGIC EXAMINATION; NEURONS; PERIPHERAL NERVES; SPINAL CORD;

EID: 33750719619     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2005.09.009     Document Type: Article

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