Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

Experimental Neurology

Volumn 261, Issue , 2014, Pages 518-539

  Lo Giudice, Temistocle ^a,b   Lombardi, Federica ^a   Santorelli, Filippo Maria ^c   Kawarai, Toshitaka ^d   Orlacchio, Antonio ^a,b  

^a IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^d UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

Hereditary spastic paraplegia; Molecular genetics; Neurodegenerative mechanisms; Neurology; Phenotype

Indexed keywords

LIPID; MITOCHONDRIAL DNA; AP5Z1 PROTEIN; ATLASTIN 1 PROTEIN; BACLOFEN; BOTULINUM TOXIN A; BOTULINUM TOXIN B; CHAPERONIN 60; CYP7B1 PROTEIN; DM20 PROTEIN; FA2H PROTEIN; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; KINESIN; MONOCARBOXYLATE TRANSPORTER 8; NERVE CELL ADHESION MOLECULE; NIPA1 PROTEIN; PNPLA6 PROTEIN; RETICULON 2; SPASTIN; SPFH2 PROTEIN; TIZANIDINE; UNCLASSIFIED DRUG;

BICD2 GENE; CCT5 GENE; CLINICAL FEATURE; DNA POLYMORPHISM; GAD1 GENE; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INHERITANCE; LIPID METABOLISM; LYST GENE; MAG GENE; MOLECULAR PATHOLOGY; NERVE FIBER TRANSPORT; OPA3 GENE; OXIDATIVE STRESS; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SPG1 GENE; SPG10 GENE; SPG11 GENE; SPG12 GENE; SPG13 GENE; SPG15 GENE; SPG17 GENE; SPG18 GENE; SPG2 GENE; SPG20 GENE; SPG22 GENE; SPG26 GENE; SPG28 GENE; SPG30 GENE; SPG31 GENE; SPG33 GENE; SPG35 GENE; SPG39 GENE; SPG3A GENE; SPG4 GENE; SPG42 GENE; SPG43 GENE; SPG44 GENE; SPG46 GENE; SPG47 GENE; SPG48 GENE; SPG50 GENE; SPG52 GENE; SPG53 GENE; SPG54 GENE; SPG55 GENE; SPG56 GENE; SPG57 GENE; SPG58 GENE; SPG5A GENE; SPG6 GENE; SPG7 GENE; SPG72 GENE; SPG8 GENE; AUTOPHAGY; CELL FUNCTION; DEMYELINATING DISEASE; DIAGNOSTIC APPROACH ROUTE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE MODEL; DISORDERS OF LIPID METABOLISM; DNA REPAIR; ENDOPLASMIC RETICULUM MEMBRANE; ENDOSOME; EXTRACHROMOSOMAL INHERITANCE; LIMB WEAKNESS; MEMBRANE PERMEABILITY; MEMBRANE TRANSPORT; MITOCHONDRION; MOLECULAR GENETICS; NERVE FIBER DEGENERATION; NONHUMAN; PATHOGENESIS; PROTEIN EXPRESSION; PROTEIN SYNTHESIS; PYRAMIDAL TRACT; SIGNAL TRANSDUCTION; SPASTICITY; SPG21 GENE; SPG49 GENE; SYMPTOMATOLOGY; XLHSP GENE; COMPLICATION; GENETIC HETEROGENEITY; GENETICS; GENOTYPE; MUTATION; PATHOLOGY; X CHROMOSOME LINKED DISORDER;

GENETIC DISEASES, X-LINKED; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; MUTATION; PHENOTYPE; PYRAMIDAL TRACTS; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84906495186     PISSN: 00144886     EISSN: 10902430     Source Type: Journal    
DOI: 10.1016/j.expneurol.2014.06.011     Document Type: Review

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