{"cited_by_count":444937,"description":"This cluster of papers explores the genetic basis and molecular mechanisms underlying various neuropathies, including Charcot-Marie-Tooth disease, hereditary spastic paraplegia, and related disorders. It covers topics such as genetic mutations, axonal degeneration, nerve growth factor, mitochondrial dysfunction, and microtubule dynamics. The research also delves into the role of neurofilament mutations and ganglioside-induced differentiation in these neuropathies.","display_name":"Hereditary Neurological Disorders","domain_id":"1","external_ids":{"openalex":"https://openalex.org/T12331","wikipedia":"https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease"},"field_id":"28","id":"T12331","keywords":[{"display_name":"Charcot-Marie-Tooth disease","id":"charcot-marie-tooth-disease","score":0.6172,"url":"https://openalex.org/keywords/charcot-marie-tooth-disease"},{"display_name":"hereditary spastic paraplegia","id":"hereditary-spastic-paraplegia","score":0.6492,"url":"https://openalex.org/keywords/hereditary-spastic-paraplegia"},{"display_name":"hereditary neuropathy","id":"hereditary-neuropathy","score":0.7176,"url":"https://openalex.org/keywords/hereditary-neuropathy"},{"display_name":"Charcot-Marie-Tooth disease type 1A","id":"charcot-marie-tooth-disease-type-1a","score":0.8333,"url":"https://openalex.org/keywords/charcot-marie-tooth-disease-type-1a"},{"display_name":"demyelinating neuropathy","id":"demyelinating-neuropathy","score":0.2088,"url":"https://openalex.org/keywords/demyelinating-neuropathy"},{"display_name":"axonal neuropathy","id":"axonal-polyneuropathy","score":0.2173,"url":"https://openalex.org/keywords/axonal-polyneuropathy"},{"display_name":"PMP22","id":"pmp22","score":0.6679,"url":"https://openalex.org/keywords/pmp22"},{"display_name":"hereditary neuropathy with liability to pressure palsies","id":"hereditary-neuropathy-with-liability-to-pressure-palsies","score":0.7676,"url":"https://openalex.org/keywords/hereditary-neuropathy-with-liability-to-pressure-palsies"},{"display_name":"spastic paraplegia","id":"spastic-paraplegia","score":0.2592,"url":"https://openalex.org/keywords/spastic-paraplegia"},{"display_name":"hereditary sensory and autonomic neuropathy","id":"hereditary-sensory-and-autonomic-neuropathy","score":0.6403,"url":"https://openalex.org/keywords/hereditary-sensory-and-autonomic-neuropathy"},{"display_name":"myelin protein zero","id":"myelin-protein-zero","score":0.5846,"url":"https://openalex.org/keywords/myelin-protein-zero"},{"display_name":"sural nerve biopsy","id":"sural-nerve-biopsy","score":0.2643,"url":"https://openalex.org/keywords/sural-nerve-biopsy"},{"display_name":"Charcot-Marie-Tooth disease type 2","id":"charcot-marie-tooth-disease-type-2","score":0.7378,"url":"https://openalex.org/keywords/charcot-marie-tooth-disease-type-2"},{"display_name":"Pelizaeus-Merzbacher disease","id":"pelizaeus-merzbacher-disease","score":0.4531,"url":"https://openalex.org/keywords/pelizaeus-merzbacher-disease"},{"display_name":"spastin","id":"spastin","score":0.498,"url":"https://openalex.org/keywords/spastin"},{"display_name":"peripheral myelin protein 22","id":"peripheral-myelin-protein-22","score":0.677,"url":"https://openalex.org/keywords/peripheral-myelin-protein-22"},{"display_name":"familial dysautonomia","id":"familial-dysautonomia","score":0.3906,"url":"https://openalex.org/keywords/familial-dysautonomia"},{"display_name":"Charcot-Marie-Tooth disease type 1","id":"charcot-marie-tooth-disease-type-1","score":0.8071,"url":"https://openalex.org/keywords/charcot-marie-tooth-disease-type-1"},{"display_name":"SPG4","id":"spg4","score":0.898,"url":"https://openalex.org/keywords/spg4"},{"display_name":"SPG11","id":"spg11","score":0.7933,"url":"https://openalex.org/keywords/spg11"},{"display_name":"inherited neuropathy","id":"inherited-neuropathy","score":0.7171,"url":"https://openalex.org/keywords/inherited-neuropathy"},{"display_name":"Charcot-Marie-Tooth disease type 1B","id":"charcot-marie-tooth-disease-type-1b","score":0.8393,"url":"https://openalex.org/keywords/charcot-marie-tooth-disease-type-1b"},{"display_name":"pes cavus","id":"pes-cavus","score":0.2382,"url":"https://openalex.org/keywords/pes-cavus"},{"display_name":"PMP22 duplication","id":"pmp22-duplication","score":0.9241,"url":"https://openalex.org/keywords/pmp22-duplication"},{"display_name":"GDAP1","id":"gdap1","score":0.7597,"url":"https://openalex.org/keywords/gdap1"}],"legacy_keywords":["Charcot-Marie-Tooth Disease","Hereditary Spastic Paraplegia","Peripheral Neuropathy","Genetic Mutations","Axonal Degeneration","Nerve Growth Factor","Mitochondrial Dysfunction","Microtubule Dynamics","Neurofilament Mutations","Ganglioside-Induced Differentiation"],"openalex_id":"https://openalex.org/T12331","source_created_date":"2024-01-23T15:27:14","source_updated_date":"2026-10-17T03:02:00","subfield_id":"2804","url":"/topics/T12331","works_api_url":"https://api.openalex.org/works?filter=topics.id:T12331","works_count":29515,"label":"Hereditary Neurological Disorders","provider":"openalex","revision":"1b9292f54ce112f2","taxonomy_revision":"f050b5d4780b1289","title":"Hereditary Neurological Disorders","kind":"topic-directory","aeo_cohort":"topic-directory","catalogue_revision":"f050b5d4780b1289","numeric_address":"38351241608603273","address_version":"morton4x16-v1","coordinates":[1,28,2804,12331],"answer_status":"Directory metadata; local answer requires separate source review","truth_status":"Subject descriptor, not a factual answer or a demonstrated knowledge gap","reviewed_answer":null}