SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory

[Guest guest]

J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1022-4.

SPTLC1 and RAB7 mutation analysis in dominantly inherited and

idiopathic sensory neuropathies.

Klein CJ, Wu Y, Kruckeberg KE, Hebbring SJ, SA, Cunningham

JM, Dyck PJ, Klein DM, Thibodeau SN, Dyck PJ.

Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

BACKGROUND: The variable clinical features of hereditary sensory and

autonomic neuropathy (HSAN I) suggest heterogeneity. Some cases of

idiopathic sensory neuropathy could be caused by missense mutations

of SPTLC1 and RAB7 and not be recognised as familial.

OBJECTIVE: To screen persons with dominantly inherited HSAN I and

others with idiopathic sensory neuropathies for known mutations of

SPTLC1 and RAB7.

PATIENTS: DNA was examined from well characterised individuals of 25

kindreds with adult onset HSAN I for mutations of SPTLC1 and RAB7; 92

patients with idiopathic sensory neuropathy were also screened for

known mutations of these genes.

RESULTS: Of the 25 kindreds, only one had a mutation (SPTLC1 399T--

>G). This kindred, and 10 without identified mutations, had prominent

mutilating foot injuries with peroneal weakness. Of the remainder, 12

had foot insensitivity with injuries but no weakness, one had

restless legs and burning feet, and one had dementia with hearing

loss. No mutation of RAB7 was found in any of these. No known

mutations of SPTLC1 or RAB7 were found in cases of idiopathic sensory

neuropathy.

CONCLUSIONS: Adult onset HSAN I is clinically and genetically

heterogeneous and further work is required to identify additional

genetic causes. Known SPTLC1or RAB7 mutations were not found in

idiopathic sensory neuropathy.