Novel de Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia with Progressive Central Nervous System Involvement

Journal of Child Neurology

Volumn 31, Issue 9, 2016, Pages 1114-1119

  Hotchkiss, Leslie ^a,b   Donkervoort, Sandra ^a   Leach, Meganne E ^a,c   Mohassel, Payam ^a   Bharucha Goebel, Diana X ^a,c   Bradley, Nathaniel ^a   Nguyen, David ^a   Hu, Ying ^a   Gurgel Giannetti, Juliana ^d   Bönnemann, Carsten G ^a  

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b WEILL CORNELL MEDICAL COLLEGE   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

Author keywords

genetics; hereditary spastic paraplegia; KIF1A; neuromuscular disorders

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CEREBELLUM ATROPHY; CHILD; CLUBFOOT; COGNITIVE DEFECT; CONSANGUINITY; CORPUS CALLOSUM AGENESIS; ECHOGRAPHY; FASCICULATION; GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERREFLEXIA; INFANT; JOINT CONTRACTURE; JOINT LAXITY; KIF1A GENE; KYPHOSIS; LANGUAGE DISABILITY; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; OPTIC NERVE HYPOPLASIA; PERIPHERAL NEUROPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCOLIOSIS; SEIZURE; TONIC CLONIC SEIZURE; BRAIN; DIAGNOSTIC IMAGING; GENETIC PREDISPOSITION; GENETICS; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE;

KIF1A PROTEIN, HUMAN; KINESIN;

ADOLESCENT; BRAIN; CHILD; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; KINESIN; MALE; MUTATION, MISSENSE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84978287515     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073816639718     Document Type: Article

References (12)

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