A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1

Brain

Volumn 137, Issue 7, 2014, Pages

  Fischer, Dirk ^a,b   Schabhüttl, Maria ^c   Wieland, Thomas ^d   Windhager, Reinhard ^c   Strom, Tim M ^d,e   Auer Grumbach, Michaela ^c  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

^b UNIVERSITY OF BASEL   (Switzerland)

^c MEDICAL UNIVERSITY OF VIENNA   (Austria)

^d INSTITUTE OF EPIDEMIOLOGY   (Germany)

^e TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ATL3 GENE; EXOME; GENE; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LETTER; MISSENSE MUTATION; MOTONEURON; NERVE CONDUCTION; NERVE POTENTIAL; NEUROPATHY; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SURAL NERVE; AUTOSOMAL DOMINANT INHERITANCE; BONE DESTRUCTION; FOOT PAIN; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SENSORY NEUROPATHY TYPE 1; HETEROZYGOTE; MUSCLE WEAKNESS; NEUROPATHOLOGY; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTIC PARAPLEGIA;

ATLASTIN 3; GUANOSINE TRIPHOSPHATASE; UNCLASSIFIED DRUG;

BONE DISEASES; ENDOPLASMIC RETICULUM; FEMALE; GTP PHOSPHOHYDROLASES; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MALE;

EID: 84903533885     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu091     Document Type: Letter

References (4)

1. de Bot ST, Veldink JH, Vermeer S, Mensenkamp AR, Brugman F, Scheffer H, et al. ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes. J Neurol 2013; 260: 869-75.
2. Guelly C, Zhu PP, Leonardis L, Papić L, Zidar J, Schabhüttl M, et al. Targeted high-throughput sequencing identifies mutations in atlastin- 1 as a cause of hereditary sensory neuropathy type I. Am J Hum Genet 2011; 88: 99-105.
3. Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, et al. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain 2014; 137 (Pt 3): 683-92.
4. Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, et al. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 2001; 29: 326-31. (Pubitemid 33096460)