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Results 1 - 10 of 10 for Axonal loss
  1. Autosomal recessive axonal neuropathy with neuromyotonia 
    ... VM, Janecke AR, De Jonghe P, Jordanova A. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet. 2012 Oct;44( ...
    https://medlineplus.gov/...sive-axonal-neuropathy-with-neuromyotonia - Genetics
  2. Giant axonal neuropathy 
    ... in the giant axons of people with giant axonal neuropathy. These giant axons do not transmit signals properly and eventually deteriorate, resulting in the death of neurons. The loss of nerve cells leads to problems with walking ...
    https://medlineplus.gov/genetics/condition/giant-axonal-neuropathy - Genetics
  3. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 
    Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a neurological condition characterized by changes to certain areas of the ...
    https://medlineplus.gov/...-with-axonal-spheroids-and-pigmented-glia - Genetics
  4. Ataxia with oculomotor apraxia 
    ... apraxia and hypoalbuminemia SCAN2 SCAR1 Spinocerebellar ataxia with axonal neuropathy type 2 Spinocerebellar ataxia, recessive, non-Friedreich ... Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Ataxia-oculomotor apraxia 3 Ataxia-oculomotor ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  5. Schindler disease 
    ... diffusum NAGA deficiency Neuroaxonal dystrophy, Schindler type Neuronal axonal dystrophy, Schindler type Genetic Testing Registry: Alpha-N- ...
    https://medlineplus.gov/genetics/condition/schindler-disease - Genetics
  6. Spinal muscular atrophy with respiratory distress type 1 
    ... atrophy type 1 DSMA1 HMN6 HMNVI Severe infantile axonal neuropathy with respiratory failure SIANRF SMARD1 Spinal muscular ...
    https://medlineplus.gov/...-atrophy-with-respiratory-distress-type-1 - Genetics
  7. Charcot-Marie-Tooth disease 
    ... DEMYELINATING, TYPE 1B; CMT1B CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1; CMT2A1 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, ... AND SENSORY NEUROPATHY V CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B; CMT2B CHARCOT-MARIE-TOOTH DISEASE, TYPE ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  8. Hereditary sensory and autonomic neuropathy type II 
    ... Timmerman V, Dion PA, Rouleau GA. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary ...
    https://medlineplus.gov/...-sensory-and-autonomic-neuropathy-type-ii - Genetics
  9. Benign familial neonatal seizures 
    ... PubMed Chung HJ, Jan YN, Jan LY. Polarized axonal surface expression of neuronal KCNQ channels is mediated ... BC, Kubisch C, Stein V, Jentsch TJ. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 ...
    https://medlineplus.gov/.../benign-familial-neonatal-seizures - Genetics
  10. Spastic paraplegia type 3A 
    ... Jonghe P. Hereditary spastic paraplegia 3A associated with axonal neuropathy. Arch Neurol. 2007 May;64(5):706- ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-3a - Genetics