U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
  • Quoted phrase not found.

Abnormal pyramidal tract morphology

MedGen UID:
892809
Concept ID:
C4021761
Anatomical Abnormality
Synonyms: Abnormality of the pyramidal tracts; Morphological abnormality of the pyramidal tract; Pyramidal tract disease
 
HPO: HP:0002062

Definition

Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. [from HPO]

Conditions with this feature

Infantile neuroaxonal dystrophy
MedGen UID:
82852
Concept ID:
C0270724
Disease or Syndrome
PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability.
Dihydropyrimidinase deficiency
MedGen UID:
83353
Concept ID:
C0342803
Disease or Syndrome
Dihydropyrimidinase deficiency (DPYSD) is an autosomal recessive disease characterized by the presence of dihydropyrimidinuria. The clinical phenotype is highly variable, ranging from early infantile onset of severe neurologic involvement, dysmorphic features, and feeding problems to late onset of mild intellectual disability and even asymptomatic individuals. Patients with a complete or partial deficiency have an increased risk of developing severe toxicity after administration of the anticancer drug 5-fluorouracil (5-FU) (summary by Nakajima et al., 2017). See also dihydropyrimidine dehydrogenase deficiency (274270), a similar disorder.
Aicardi-Goutieres syndrome 1
MedGen UID:
162912
Concept ID:
C0796126
Disease or Syndrome
Most characteristically, Aicardi-Goutières syndrome (AGS) manifests as an early-onset encephalopathy that usually, but not always, results in severe intellectual and physical disability. A subgroup of infants with AGS present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture highly suggestive of congenital infection. Otherwise, most affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development. Typically, they demonstrate the subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth. Over time, as many as 40% develop chilblain skin lesions on the fingers, toes, and ears. It is becoming apparent that atypical, sometimes milder, cases of AGS exist, and thus the true extent of the phenotype associated with pathogenic variants in the AGS-related genes is not yet known.
Dystonia 9
MedGen UID:
371427
Concept ID:
C1832855
Disease or Syndrome
The phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS) is now known to be a continuum that includes the classic phenotype as well as paroxysmal exercise-induced dyskinesia and epilepsy (previously known as dystonia 18 [DYT18]) and paroxysmal choreoathetosis with spasticity (previously known as dystonia 9 [DYT9]), atypical childhood absence epilepsy, myoclonic astatic epilepsy, and paroxysmal non-epileptic findings including intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia. The classic phenotype is characterized by infantile-onset seizures, delayed neurologic development, acquired microcephaly, and complex movement disorders. Seizures in classic early-onset Glut1 DS begin before age six months. Several seizure types occur: generalized tonic or clonic, focal, myoclonic, atypical absence, atonic, and unclassified. In some infants, apneic episodes and abnormal episodic eye-head movements similar to opsoclonus may precede the onset of seizures. The frequency, severity, and type of seizures vary among affected individuals and are not related to disease severity. Cognitive impairment, ranging from learning disabilities to severe intellectual disability, is typical. The complex movement disorder, characterized by ataxia, dystonia, and chorea, may occur in any combination and may be continuous, paroxysmal, or continual with fluctuations in severity influenced by environmental factors such as fasting or with infectious stress. Symptoms often improve substantially when a ketogenic diet is started.
Spinocerebellar ataxia type 8
MedGen UID:
332457
Concept ID:
C1837454
Disease or Syndrome
SCA8 is a slowly progressive ataxia with onset typically in the third to fifth decade but with a range from before age one year to after age 60 years. Common initial manifestations are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability. Over the disease course other findings can include eye movement abnormalities (nystagmus, abnormal pursuit and abnormal saccades, and, rarely, ophthalmoplegia); upper motor neuron involvement; extrapyramidal signs; brain stem signs (dysphagia and poor cough reflex); sensory neuropathy; and cognitive impairment (e.g., executive dysfunction, psychomotor slowing and other features of cerebellar cognitive-affective disorder in some). Life span is typically not shortened.
Amyotrophic lateral sclerosis type 8
MedGen UID:
325237
Concept ID:
C1837728
Disease or Syndrome
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Caused by heterozygous mutation in the VAPB gene on chromosome 20q13.
Biotin-responsive basal ganglia disease
MedGen UID:
375289
Concept ID:
C1843807
Disease or Syndrome
Biotin-thiamine-responsive basal ganglia disease (BTBGD) may present in childhood, early infancy, or adulthood. The classic presentation of BTBGD occurs in childhood (age 3-10 years) and is characterized by recurrent subacute encephalopathy manifest as confusion, seizures, ataxia, dystonia, supranuclear facial palsy, external ophthalmoplegia, and/or dysphagia which, if left untreated, can eventually lead to coma and even death. Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common. Hemiparesis or quadriparesis may be seen. Episodes are often triggered by febrile illness or mild trauma or stress. Simple partial or generalized seizures are easily controlled with anti-seizure medication. An early-infantile Leigh-like syndrome / atypical infantile spasms presentation occurs in the first three months of life with poor feeding, vomiting, acute encephalopathy, and severe lactic acidosis. An adult-onset Wernicke-like encephalopathy presentation is characterized by acute onset of status epilepticus, ataxia, nystagmus, diplopia, and ophthalmoplegia in the second decade of life. Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days in the childhood and adult presentations, but most with the infantile presentation have had poor outcome even after supplementation with biotin and thiamine.
Progressive supranuclear palsy-parkinsonism syndrome
MedGen UID:
342410
Concept ID:
C1850077
Disease or Syndrome
An atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease, by prominent early parkinsonism (tremor, limb bradykinesia, axial and limb rigidity) rather than falls and cognitive change. Over the years, patients ultimately develop clinical features characteristic of classical PSP. Neuropathological characteristics includes tau pathology and neuronal loss in specific brain areas, especially in the subthalamic nucleus and substantia nigra. The tau pathology is less severe than in classical PSP.
Giant axonal neuropathy 1
MedGen UID:
376775
Concept ID:
C1850386
Disease or Syndrome
GAN-related neurodegeneration comprises a phenotypic continuum ranging from severe (sometimes called classic giant axonal neuropathy) to milder pure early-onset peripheral motor and sensory neuropathies. The classic giant axonal neuropathy phenotype typically manifests as an infantile-onset neurodegenerative disorder, starting as a severe peripheral motor and sensory neuropathy and evolving into central nervous system impairment (intellectual disability, seizures, cerebellar signs, and pyramidal tract signs). Most affected individuals become wheelchair dependent in the second decade of life and eventually bedridden with severe polyneuropathy, ataxia, and dementia. Death usually occurs in the third decade. At the milder end of the spectrum are predominantly motor and sensory neuropathies (with little to no CNS involvement) that overlap with the axonal form of Charcot-Marie-Tooth neuropathies.
Spinocerebellar ataxia type 13
MedGen UID:
344297
Concept ID:
C1854488
Disease or Syndrome
Spinocerebellar ataxia type 13 (SCA13) is a phenotypic spectrum that includes both non-progressive infantile-onset ataxia and progressive childhood-onset and adult-onset cerebellar ataxia. Three phenotypes are seen: Cerebellar hypoplasia with non-progressive infantile-onset limb, truncal, and gait ataxia with mild-to-moderate intellectual disability and occasionally seizures and/or psychiatric manifestations. Cognition and motor skills improve over time. Childhood-onset slowly progressive cerebellar atrophy with slowly progressive cerebellar ataxia and dysarthria, delayed motor milestones, and mild-to-moderate intellectual disability. Adult-onset progressive cerebellar atrophy with progressive ataxia and spasticity.
L-2-hydroxyglutaric aciduria
MedGen UID:
341029
Concept ID:
C1855995
Disease or Syndrome
2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).\n\nThe main features of D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I.\n\nL-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood.\n\nCombined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood.
Huntington disease-like 3
MedGen UID:
347622
Concept ID:
C1858114
Disease or Syndrome
A rare Huntington disease-like syndrome with characteristics of childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy.
Friedreich ataxia 2
MedGen UID:
356134
Concept ID:
C1865981
Disease or Syndrome
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by Delatycki et al., 2000). For a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 (229300), which is caused by mutation in the FXN gene (606829) on chromosome 9q13.
Spinocerebellar ataxia type 10
MedGen UID:
369786
Concept ID:
C1963674
Disease or Syndrome
Spinocerebellar ataxia type 10 (SCA10) is characterized by slowly progressive cerebellar ataxia that usually starts as poor balance and unsteady gait, followed by upper-limb ataxia, scanning dysarthria, and dysphagia. Abnormal tracking eye movements are common. Recurrent seizures after the onset of gait ataxia have been reported with variable frequencies among different families. Some individuals have cognitive dysfunction, behavioral disturbances, mood disorders, mild pyramidal signs, and peripheral neuropathy. Age of onset ranges from 12 to 48 years.
Dystonia 16
MedGen UID:
436979
Concept ID:
C2677567
Disease or Syndrome
Dystonia 16 is one of many forms of dystonia, which is a group of conditions characterized by involuntary movements, twisting (torsion) and tensing of various muscles, and unusual positioning of affected body parts. Dystonia 16 can appear at any age from infancy through adulthood, although it most often begins in childhood.\n\nThe signs and symptoms of dystonia 16 vary among people with the condition. In many affected individuals, the disorder first affects muscles in one or both arms or legs. Tensing (contraction) of the muscles often sets the affected limb in an abnormal position, which may be painful and can lead to difficulty performing tasks, such as walking. In others, muscles in the neck are affected first, causing the head to be pulled backward and positioned with the chin in the air (retrocollis).\n\nIn dystonia 16, muscles of the jaw, lips, and tongue are also commonly affected (oromandibular dystonia), causing difficulty opening and closing the mouth and problems with swallowing and speech. Speech can also be affected by involuntary tensing of the muscles that control the vocal cords (laryngeal dystonia), resulting in a quiet, breathy voice or an inability to speak clearly. Dystonia 16 gradually gets worse, eventually involving muscles in most parts of the body.\n\nSome people with dystonia 16 develop a pattern of movement abnormalities known as parkinsonism. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). In dystonia 16, parkinsonism is relatively mild if it develops at all.\n\nThe signs and symptoms of dystonia 16 usually do not get better when treated with drugs that are typically used for movement disorders.
Cerebroretinal microangiopathy with calcifications and cysts 1
MedGen UID:
1636142
Concept ID:
C4552029
Disease or Syndrome
Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding. Classic DC is characterized by a triad of dysplastic nails, lacy reticular pigmentation of the upper chest and/or neck, and oral leukoplakia, although this may not be present in all individuals. People with DC/TBD are at increased risk for progressive bone marrow failure (BMF), myelodysplastic syndrome or acute myelogenous leukemia, solid tumors (usually squamous cell carcinoma of the head/neck or anogenital cancer), and pulmonary fibrosis. Other findings can include eye abnormalities (epiphora, blepharitis, sparse eyelashes, ectropion, entropion, trichiasis), taurodontism, liver disease, gastrointestinal telangiectasias, and avascular necrosis of the hips or shoulders. Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exudative retinopathy and intracranial calcifications (Revesz syndrome and Coats plus syndrome). Onset and progression of manifestations of DC/TBD vary: at the mild end of the spectrum are those who have only minimal physical findings with normal bone marrow function, and at the severe end are those who have the diagnostic triad and early-onset BMF.
Classic dopamine transporter deficiency syndrome
MedGen UID:
1814585
Concept ID:
C5700336
Disease or Syndrome
SLC6A3-related dopamine transporter deficiency syndrome (DTDS) is a complex movement disorder with a continuum that ranges from classic early-onset DTDS (in the first 6 months) to atypical later-onset DTDS (in childhood, adolescence, or adulthood). Classic DTDS. Infants typically manifest nonspecific findings (irritability, feeding difficulties, axial hypotonia, and/or delayed motor development) followed by a hyperkinetic movement disorder (with features of chorea, dystonia, ballismus, orolingual dyskinesia). Over time, affected individuals develop parkinsonism-dystonia characterized by bradykinesia (progressing to akinesia), dystonic posturing, distal tremor, rigidity, and reduced facial expression. Limitation of voluntary movements leads to severe motor delay. Episodic status dystonicus, exacerbations of dystonia, and secondary orthopedic, gastrointestinal, and respiratory complications are common. Many affected individuals appear to show relative preservation of intellect with good cognitive development. Atypical DTDS. Normal psychomotor development in infancy and early childhood is followed by later-onset manifestations of parkinsonism-dystonia with tremor, progressive bradykinesia, variable tone, and dystonic posturing. The long-term outcome of this form is currently unknown.

Professional guidelines

PubMed

Marrodan M, Correale J, Alessandro L, Amaya M, Fracaro ME, Köhler AA, Fiol M
Mult Scler Relat Disord 2017 Jul;15:42-46. Epub 2017 May 3 doi: 10.1016/j.msard.2017.04.007. PMID: 28641772
Lee AY, Choi BY, Kim SH, Chang CH, Jung YJ, Jang SH
Int J Neurosci 2016;126(5):429-35. Epub 2015 Jul 28 doi: 10.3109/00207454.2015.1026966. PMID: 26000805
Cho JY, Sung JJ, Min JH, Lee KW
J Clin Neurosci 2006 Nov;13(9):908-12. Epub 2006 Oct 16 doi: 10.1016/j.jocn.2006.01.044. PMID: 17049243

Recent clinical studies

Etiology

Martinello C, Panza E, Orlacchio A
Expert Rev Proteomics 2023 Jul-Dec;20(7-9):171-188. Epub 2023 Oct 16 doi: 10.1080/14789450.2023.2260952. PMID: 37788157
Alkhalifa A, Chen S, Hasiloglu ZI, Filosto M, Cali E, Houlden H, Sgobbi de Souza P, Alavi A, Goizet C, Stevanin G, Taithe F, Nicita F, Vasco G, Tozza S, Cocozza S, Carboni N, Figus A, Wu J, Basak AN, Brais B, Rouleau G, La Piana R
J Neurol 2023 Dec;270(12):5784-5792. Epub 2023 Aug 14 doi: 10.1007/s00415-023-11918-5. PMID: 37578488
Boyd LC, O'Brien KJ, Ozkaya N, Lehky T, Meoded A, Gochuico BR, Hannah-Shmouni F, Nath A, Toro C, Gahl WA, Estrada-Veras JI, Dave RH
Ann Clin Transl Neurol 2020 Apr;7(4):497-506. Epub 2020 Mar 29 doi: 10.1002/acn3.51014. PMID: 32227455Free PMC Article
Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A
Exp Neurol 2014 Nov;261:518-39. Epub 2014 Jun 20 doi: 10.1016/j.expneurol.2014.06.011. PMID: 24954637
Martin JJ
Handb Clin Neurol 2012;103:475-91. doi: 10.1016/B978-0-444-51892-7.00030-9. PMID: 21827908

Diagnosis

Martinello C, Panza E, Orlacchio A
Expert Rev Proteomics 2023 Jul-Dec;20(7-9):171-188. Epub 2023 Oct 16 doi: 10.1080/14789450.2023.2260952. PMID: 37788157
Boyd LC, O'Brien KJ, Ozkaya N, Lehky T, Meoded A, Gochuico BR, Hannah-Shmouni F, Nath A, Toro C, Gahl WA, Estrada-Veras JI, Dave RH
Ann Clin Transl Neurol 2020 Apr;7(4):497-506. Epub 2020 Mar 29 doi: 10.1002/acn3.51014. PMID: 32227455Free PMC Article
Wycoco V, Shroff M, Sudhakar S, Lee W
Neuroimaging Clin N Am 2013 May;23(2):197-216. Epub 2013 Jan 20 doi: 10.1016/j.nic.2012.12.002. PMID: 23608685
Martin JJ
Handb Clin Neurol 2012;103:475-91. doi: 10.1016/B978-0-444-51892-7.00030-9. PMID: 21827908
Aouizerate B, Guehl D, Cuny E, Rougier A, Bioulac B, Tignol J, Burbaud P
Prog Neurobiol 2004 Feb;72(3):195-221. doi: 10.1016/j.pneurobio.2004.02.004. PMID: 15130710

Therapy

Wang AC, Ibrahim GM, Poliakov AV, Wang PI, Fallah A, Mathern GW, Buckley RT, Collins K, Weil AG, Shurtleff HA, Warner MH, Perez FA, Shaw DW, Wright JN, Saneto RP, Novotny EJ, Lee A, Browd SR, Ojemann JG
J Neurosurg Pediatr 2018 Jan;21(1):81-89. Epub 2017 Nov 3 doi: 10.3171/2017.7.PEDS17137. PMID: 29099351
Schiffmann R, Mayfield J, Swift C, Nestrasil I
Mol Genet Metab 2014 Feb;111(2):147-51. Epub 2013 Nov 21 doi: 10.1016/j.ymgme.2013.11.007. PMID: 24332805Free PMC Article
Qi R, Zhang LJ, Zhong J, Zhu T, Zhang Z, Xu C, Zheng G, Lu GM
Eur Radiol 2013 Dec;23(12):3370-8. Epub 2013 Jul 10 doi: 10.1007/s00330-013-2963-2. PMID: 23839169
Lin F, Yu C, Jiang T, Li K, Chan P
AJNR Am J Neuroradiol 2007 Feb;28(2):278-82. PMID: 17296994Free PMC Article
Waterreus RJ, Koopman BJ, Wolthers BG, Oosterhuis HJ
Clin Neurol Neurosurg 1987;89(3):169-75. doi: 10.1016/s0303-8467(87)80050-1. PMID: 3665290

Prognosis

Martinello C, Panza E, Orlacchio A
Expert Rev Proteomics 2023 Jul-Dec;20(7-9):171-188. Epub 2023 Oct 16 doi: 10.1080/14789450.2023.2260952. PMID: 37788157
Rezende TJR, Adanyeguh IM, Arrigoni F, Bender B, Cendes F, Corben LA, Deistung A, Delatycki M, Dogan I, Egan GF, Göricke SL, Georgiou-Karistianis N, Henry PG, Hutter D, Jahanshad N, Joers JM, Lenglet C, Lindig T, Martinez ARM, Martinuzzi A, Paparella G, Peruzzo D, Reetz K, Romanzetti S, Schöls L, Schulz JB, Synofzik M, Thomopoulos SI, Thompson PM, Timmann D, Harding IH, França MC Jr
Mov Disord 2023 Jan;38(1):45-56. Epub 2022 Oct 29 doi: 10.1002/mds.29261. PMID: 36308733Free PMC Article
Takeda T, Iijima M, Seki M, Higuchi E, Shimizu Y, Shibata N, Kitagawa K
Clin Neuropathol 2022 Jul-Aug;41(4):157-161. doi: 10.5414/NP301438. PMID: 35343426
Zhao H, Cheng J, Jiang J, Zuo L, Zhu W, Wen W, Sachdev P, Wang Y, Liu T, Li Z
Neuropsychologia 2021 Sep 17;160:107980. Epub 2021 Aug 2 doi: 10.1016/j.neuropsychologia.2021.107980. PMID: 34352268
Terry RD
Fed Proc 1978 Dec;37(14):2837-40. PMID: 720637

Clinical prediction guides

Martinello C, Panza E, Orlacchio A
Expert Rev Proteomics 2023 Jul-Dec;20(7-9):171-188. Epub 2023 Oct 16 doi: 10.1080/14789450.2023.2260952. PMID: 37788157
Alkhalifa A, Chen S, Hasiloglu ZI, Filosto M, Cali E, Houlden H, Sgobbi de Souza P, Alavi A, Goizet C, Stevanin G, Taithe F, Nicita F, Vasco G, Tozza S, Cocozza S, Carboni N, Figus A, Wu J, Basak AN, Brais B, Rouleau G, La Piana R
J Neurol 2023 Dec;270(12):5784-5792. Epub 2023 Aug 14 doi: 10.1007/s00415-023-11918-5. PMID: 37578488
Takeda T, Iijima M, Seki M, Higuchi E, Shimizu Y, Shibata N, Kitagawa K
Clin Neuropathol 2022 Jul-Aug;41(4):157-161. doi: 10.5414/NP301438. PMID: 35343426
Horga A, Laurà M, Jaunmuktane Z, Jerath NU, Gonzalez MA, Polke JM, Poh R, Blake JC, Liu YT, Wiethoff S, Bettencourt C, Lunn MP, Manji H, Hanna MG, Houlden H, Brandner S, Züchner S, Shy M, Reilly MM
J Neurol Neurosurg Psychiatry 2017 Jul;88(7):575-585. Epub 2017 May 13 doi: 10.1136/jnnp-2016-315077. PMID: 28501821Free PMC Article
Delrue MA, Chateil JF, Arveiler B, Lacombe D
Am J Med Genet A 2003 Dec 15;123A(3):301-5. doi: 10.1002/ajmg.a.20330. PMID: 14608654

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...