Familial asymmetric distal upper limb amyotrophy (Hirayama Disease): Report of a Greek family

Neurologist

Volumn 15, Issue 3, 2009, Pages 156-160

  Andreadou, Elisabeth ^a   Christodoulou, Kyproula ^b   Manta, Panagiota ^a   Karandreas, Nicos ^a   Loukaidis, Panagiotis ^a   Sfagos, Constantinos ^a   Vassilopoulos, Demetrios ^a  

^a NATIONAL AND KAPODISTRIAN UNIVERSITY OF ATHENS   (Greece)

^b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

Author keywords

Distal spinal muscular atrophy type V (dSMA V); Distal upper limb amyotrophy; Familial occurrence; Hirayama disease; Upper limbs

Indexed keywords

GLYCINE TRANSFER RNA LIGASE;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLINICAL FEATURE; DISEASE DURATION; FAMILIAL DISEASE; FEMALE; HIRAYAMA DISEASE; HUMAN; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPINAL MUSCULAR ATROPHY; ARM; FAMILY; GENETICS; GREECE; INNERVATION; MIDDLE AGED; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE;

ADULT; AGED; FAMILY; FEMALE; GREECE; HUMANS; MALE; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; PEDIGREE; UPPER EXTREMITY;

EID: 67649774524     PISSN: 10747931     EISSN: None     Source Type: Journal    
DOI: 10.1097/NRL.0b013e31818d6717     Document Type: Article

References (25)

1. Hirayama K, Tokumaru Y. Cervical dural sac and spinal cord in juvenile muscular atrophy of distal upper extremity. Neurology. 2000;54:1922-1926.
2. Robberecht W, Aguire T, Van Den Bosch L, et al. Familial juvenile focal amyotrophy of the upper extremity (Hirayama disease) superoxide dismutase 1 genotype and activity. Arch Neurol. 1997;54:46-50.
3. Schröder R, Keller E, Flacke S, et al. MRI findings in Hirayama disease: flexion-induced myelopathy or intrinsic motor neuron disease? J Neurol. 1999;246:1069 -1074.
4. Baba Y, Nakajima M, Utsomiya H, et al. Magnetic resonance imaging of thoracic epidural venous dilatation in Hirayama disease. Neurology. 2004;62: 1426-1428.
5. Pradhan S, Gupta RK. Magnetic resonance imaging in juvenile asymmetric segmental spinal muscular atrophy. J Neurol Sci. 1997;146:133-138.
6. Toma S, Shiozawa Z. Amyotrophic cervical myelopathy in adolescence. J Neurol Neurosurg Psychiatry. 1995;58:56-64.
7. Hirayama K, Tomonaga M, Kitano K, et al. Focal cervical poliopathy causing juvenile muscular atrophy of distal upper extremity: a pathological study. J Neurol Neurosurg Psychiatry. 1987;50:285-290.
8. Schegel U, Jerusalem F, Tackmann W, et al. Benign juvenile focal muscular atrophy of upper extremities-a familial case. J Neurol Sci. 1987;80:351-353.
9. Tandan R, Sharma KR, Bradley WG, et al. Chronic segmental spinal muscular atrophy of upper extremities in identical twins. Neurology. 1990;40: 236-239.
10. Nalini A, Lokesh L, Ratnavalli E. Familial monomelic amyotrophy: a case report from India. J Neurol Sci. 2004;220:95-98.
11. Misra UK, Kalita J, Mishra VN, et al. A clinical, magnetic resonance imaging and survival motor neuron gene deletion study of Hirayama disease. Arch Neurol. 2005;62:120-123.
12. Christodoulou K, Kyriakides T, Hristova A, et al. Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. Hum Mol Genet. 1995;4:1629-1632.
13. Antonellis A, Ellsworth RE, Sambuughin N, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003;72:1293-1299.
14. Auer-Grumbach M, Schlotter-Weigel B, Lochmuller H, et al. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. Ann Neurol. 2005;57:415-424.
15. Irobi J, Van De Berg P, Merlini L, et al. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain. 2004;127(Pt 9):2124-2130.
16. Tashiro K, Kikuchi S, Itoyama Y, et al. Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan. Amyotroph Lateral Scler. 2006;7:38-45.
17. Filler AG, Maravilla KR, Tsuruda JS. MR neurography and muscle MR imaging for image diagnosis of disorders affecting the peripheral nerves and musculature. Neurol Clin. 2004;22:643-682.
18. Van Affen N, Van Engelen BGM. The clinical spectrum of neuralgic amyotrophy in 246 cases. Brain. 2006;129:438-450.
19. Andreadou E, Yapijakis C, Paraskevas GP, et al. Hereditary neuropathy with liability to pressure palsies: the same molecular defect can result in diverse clinical presentation. J Neurol. 1996;243:225-230.
20. Chance PF. Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy. Neuromo-lecular Med. 2006;8:159-174.
21. Irobi J, De Jonghe P, Timmerman V. Molecular genetics of distal hereditary motor neuropathies. Hum Mol Genet. 2004;13(spec No 2):R195-R202.
22. Irobi J, Dierick I, Jordanova A, et al. Unravelling the genetics of distal hereditary motor neuropathies. Neuromolecular Med. 2006;8:131-146.
23. Dierick I, Baets J, Irobi J, et al. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. Brain. 2008;131:1217-1227.
24. Willeit J, Kieshl-Kohlendorfer U, Golaszewski S, et al. Juvenile asymmetric segmental spinal muscular atrophy (Hirayama disease). Three cases without evidence of "flexion myelopathy." Acta Neurol Scand. 2001;104:320-322.
25. Di Gulielmo G, Brahe C, Di Muzio A, et al. Benign monomelic amyotrophies of upper and lower limb are not associated to deletions of survival motor neuron gene. J Neurol Sci. 1996;141:111-113.