Support and resources
Support
Leukodystrophy Australia is the national peak organisation representing all people impacted by Leukodystrophy. It offers emotional, practical and financial support, and fosters connections through peer support, member events and family gatherings. It promotes leukodystrophy-related research and community education.
Leukodystrophy Australia’s Family Advocate Program services members Australia-wide. The program offers social work support to individuals and families impacted by leukodystrophy, through service linkages, liaison, and advocacy. It aims to ensure that local case management and extended services are offered in a timely, effective and respectful manner.
General leukodystrophy resources and type specific resources
Click on the conditions below to display type specific resources. General leukodystrophy resources can also be found below.
We acknowledge the Childhood Dementia Knowledgebase as a source of information for this page.
General leukodystrophy resources
Leukodystrophy Clinical Trials
Chloe’s fight rare disease foundation
Cracking The Code (Stephen and Sally Damiani with Leah Kaminski)
European Leukodystrophy Association
Genetic Counselling for the Leukodystrophies video
Global Leukodystrophy Initiative Assocation
Just for kids: this thing called leukodystrophy
Living with Leukodystrophy e-book
Loie’s Disease – a children’s book about Leukodystrophy (and other publications by Maria Kefalas)
4H Leukodystrophy
| Alternate Names
|
POLR3-Related Leukodystrophies, 4H syndrome, 4HS, (Leukodystrophy, Hypomyelinating, 15, 8, 11, 21) |
| Description | A rare hypomyelinating leukodystrophy disorder characterised by the association of dental abnormalities (such as delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and neurodevelopmental delay or regression and/or progressive cerebellar symptoms. |
| Subtypes | Yes, 4 types due to four different genes |
| Approved Treatments | No |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | > 200 cases reported, but exact incidence is unknown |
| Current Clinical Trials | No current clinical trials found |
| Support | The Yaya Foundation for 4H Leukodystrophy |
Adrenoleukodystrophy (ALD)
| Alternative Names | X-linked adrenoleukodystrophy, ALD, X-ALD, X-linked ALD |
| Description | A rare progressive peroxisomal disorder characterised by endocrine dysfunction (adrenal failure and sometimes testicular insufficiency), progressive myelopathy, peripheral neuropathy and, variably, progressive leukodystrophy. There are 6 phenotypes with different symptom onset and features, two of which are associated with childhood dementia. |
| Subtypes | No |
| Approved Treatments | Bone marrow transplant (HSCT).
This must be done early in disease progression and comes with varied benefits and significant risks. |
| Inheritance | X-linked recessive |
| Incidence per 100,000 births | 1.1
Estimated birth incidence of 1 in 17,000 newborns (male and female). Incidence of 1.1 per 100,000 takes into account 35-40% of males that develop childhood dementia. |
| Current Clinical Trials | 19 current studies found: |
| Fact Sheet | Adrenoleukodystrophy Fact Sheet |
| Support | ALD Alliance |
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)
| Alternate Names | Leukoencephalopathy, Hereditary Diffuse, with Spheroids (HDLS1), Leukoencephalopathy with neuroaxonal spheroids, Autosomal Dominant Gliosis, Familial Progressive Subcortical; GPSC Dementia, familial, Neumann type subcortical gliosis of neumann |
| Description | It is an adult-onset disorder that is rapidly progressive neurodegenerative and characterised by variable changes in behaviour, cognition and motor skills. |
| Subtypes | Yes, HDLS1 caused by CSF1R gene and HDLS2 caused by AARS1 gene |
| Approved Treatments | No |
| Inheritance | Autosomal dominant |
| Incidence per 100,000 births | Approximately 1 per 100,000 births |
| Current Clinical Trials | 3 current studies found:
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT (HSCT+RIC) |
| Support | ALSP Info |
Aicardi-Goutieres Syndrome (AGS)
| Alternate Names | Encephalopathy with basal ganglia calcification, Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid |
| Description | Onset occurs within the first few days or month of life with severe, subacute encephalopathy (feeding problems, irritability and psychomotor regression or delay) associated with epilepsy (53% of cases), chilblain skin lesions on the extremities (43% of cases) and episodes of aseptic febrile illness (40% of cases). These symptoms progress over several months along with the development of microcephaly and pyramidal signs before the disease course stabilises. In less severe forms the onset is after 1 year with the preservation of language skills and cognitive function, and normal head circumference |
| Subtypes | Yes, types 1-9 |
| Approved Treatments | No |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | Just over 120 cases have been reported, thus exact prevalence unknown |
| Natural History Study | Aicardi-Goutières Syndrome (AGS) Natural History Research |
| Current Clinical Trials | 5 current studies found:
Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome (RTI in AGS) TPN-101 in Aicardi-Goutières Syndrome (AGS) Inhibition of Reverse Transcription in Aicardi-Goutières Syndrome (AGS-RTI) |
| Fact Sheet | Aicardi Goutieres Syndrome Fact Sheet |
| Support | International Aicardi-Goutieres Syndrome Assocation |
Alexander Disease (AxD)
| Alternate Names | AxD type I |
| Description | A rare neurodegenerative disorder of astrocytes, leukodystrophy, that is characterised by psychomotor regression. Symptoms include macrocephaly, spasticity, ataxia and seizures. |
| Subtypes | No |
| Approved Treatments | No |
| Inheritance | Autosomal dominant |
| Incidence per 100,000 births | 0.06 |
| Natural History Study | Alexander Disease (AxD) Natural History Research |
| Current Clinical Trials | 3 current studies found:
A Study to Evaluate the Safety and Efficacy of ION373 in Patients With Alexander Disease (AxD) Evaluation of Outcome Metrics in Alexander Disease (AxD Outcomes) Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases |
| Fact Sheet | Alexander Disease Fact Sheet |
| Support | Elise’s Corner |
Canavan Disease
| Alternate Names | ACY2 deficiency, Aminoacylase 2 deficiency, Aspartoacylase deficiency, ASPA deficiency, ASP deficiency, Spongy degeneration of the brain, Spongy Degeneration of Central Nervous System, Canavan-van Bogaert-bertrand disease |
| Description | A neurodegenerative disorder which has a severe form (leukodystrophy, macrocephaly and severe developmental delay) and a very rare mild/juvenile form (mild developmental delay) |
| Subtypes | No |
| Approved Treatments | No |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | 1 (Matalon et al., 2021)
This is in the general population, however if both parents are Ashkenazi Jews then the incidence is 1: 6,400 to 1 : 13,500 births |
| Current Clinical Trials | 4 current studies found:
A Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire) rAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease (CAN-GT) |
| Fact Sheet | Canavan Disease Fact Sheet |
| Support | Canavan Foundation |
Cerebral Antereiopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
| Alternate Names | Dementia, Hereditary Multiinfarct Type; CASIL |
| Description | A progressive disorder of the small arterial vessels of the brain, which blocks blood flow to the brain. This manifests by migraine, strokes, and white matter lesions, and in some patients resultant cognitive impairment. |
| Subtypes | Yes
CADASIL1 caused by NOTCH3 gene CADASIL2 (CARASIL) caused by HTRA1 gene |
| Approved Treatments | No |
| Inheritance | Autosomal dominant |
| Incidence per 100,000 births | Unknown, due to age of diagnosis and misdiagnosis (National Organization for Rare Disorders) |
| Current Clinical Trials | 8 current studies found: |
| Support | CADASIL Foundation |
Cerebrotendinous Xanthomatosis (CTX)
| Alternate Names | Sterol 27-hydroxylase deficiency, Cerebral Cholesterinosis |
| Description | An anomaly of bile acid synthesis characterised by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction |
| Subtypes | No |
| Approved Treatments | Chenodeoxycholic acid (CDCA), bile acid supplementation (Ox bile)
These need to be started as early as possible for prevention of neurological damage and deterioration |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | 0.23
Calculated using the average incidence in Europe |
| Current Clinical Trials | 3 current studies found:
Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE) A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX) (F-GENE) Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
|
| Fact Sheet | Cerebrotendinous Xanthomatosis Fact Sheet |
| Support | CTX Alliance |
Cockayne Syndrome
| Alternate Names | Xeroderma pigmentosum-Cockayne syndrome, XP, XP-CS, De Sanctis-Cacchione syndrome |
| Description | A multisystem condition that has similar features to other disorders such as xeroderma pigmentosum (XP). Symptoms include short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. |
| Subtypes | 4 subtypes: type A, type, type C and XP |
| Approved Treatments | No |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | 0.29 for combined, 0.27 for CS and 0.024 for XP |
| Natural History Study | Natural History Study for DNA Repair Disorders |
| Current Clinical Trials | 2 current studies found: |
| Support | Amy and Friends |
Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)
| Alternate Names | TUBB4A, TUBB4A-related leukodystrophy, TUBB4A-associated hypomyelinating leukoencephalopathy, H-ABC, (Leukodystrophy, Hypomyelinating, 6) |
| Description | A neurologic disorder characterised by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. H-ABC is considered a more severe form of the disease. |
| Subtypes | No |
| Approved Treatments | No |
| Inheritance | Autosomal dominant (TUBB4A), Autosomal recessive (UFM1) |
| Incidence per 100,000 births | > 70 affected individuals described in literature as of 2017 |
| Natural History Study | Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC) Natural History Study |
| Current Clinical Trials | No current clinical trials found |
| Fact Sheet | H-ABC Fact Sheet |
| Support | H-ABC Foundation UK |
Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity (HBSL)
| Alternate Names | Aspartyl-tRNA Synthetase Deficiency |
| Description | Early-onset condition resulting in severe spasticity, mainly in the lower limbs and an inability to achieve independent ambulation. There is delayed motor development and nystagmus, some may have mild intellectual disability. |
| Subtypes | No |
| Approved Treatments | No |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | Unknown |
| Current Clinical Trials | No current clinical trials found |
| Fact Sheet | HBSL Fact Sheet |
| Support | Mission Massimo Foundation |
Krabbe Disease
| Alternate Names | Globoid Cell Leukodystrophy, GLD, GCL, Globoid Cell Leukoencephalopathy, Galactosylceramide Beta-Galactosidase Deficiency, GalactoCerebrosidase Deficiency, GALC Deficiency
Krabbe Disease, Atypical, Due To Saposin A Deficiency; KRBSAPA, Saposin A Deficiency |
| Description | A rare lysosomal disorder that affects the white matter of the central and peripheral nervous systems characterised by neurodegeneration. The severity of neurodegeneration depends on the age of onset. |
| Subtypes | Yes, the typical (GLD) and atypical (due to Saposin A deficiency) |
| Approved Treatments | Bone marrow transplant (HSCT)
Benefit is variable and comes with significant risks |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | 0.43 in Australia |
| Current Clinical Trials | 9 current studies found: |
| Fact Sheet | Krabbe Disease Fact Sheet |
| Support | Baby Reesa Foundation
The Legacy of Angels Foundation |
Leukodystrophies associated with Mitochondrial Disease
Leukodystrophy with thalamus and brainstem cord involvement and lactate elevation (LTBL)
| Description | An inherited disorder that impacts specific regions of the brain such as the cerebellum, thalamus, corpus collosum (tissue that connects the two halves of the brain) and brainstem. It also decreases mitochondrial function causing a lack of energy thus is also a mitochondrial disease. Symptoms vary with severe type symptoms showing soon after birth and mild after 6 months. |
| Subtypes | Severe and milder forms |
| Approved Treatments | No |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | Unknown but is considered rare |
| Current Clinical Trials | No current studies found |
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL)
| Alternate Names | Mitochondrial Aspartyl-tRNA Synthetase Deficiency |
| Description | This condition is diagnosed by a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. Symptoms include: slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, and sometimes a mild cognitive deficit or decline |
| Subtypes | No |
| Approved Treatments | No |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | Unknown, it is very rare, with a low carrier rate except for Finland where 1:95 people are a carrier. (Engelen et al., 2021) |
| Current Clinical Trials | 2 current studies found: |
| Support | Cure LBSL (formerly A cure for Ellie) |
Leukoencephalopathy with Calcifications and Cysts (LCC)
| Alternate Names | Labrune syndrome |
| Description | A very rare genetic cerebral small vessel disease characterised by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. Variable symptoms but all are related to the central nervous system which include slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features. |
| Subtypes | No |
| Approved Treatments | No |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | Unknown due to ultra rare nature of this condition, around 40-40 patients have been reported in academic literature |
| Current Clinical Trials | No current clinical trials found |
| Fact Sheet | LCC Fact Sheet |
Megalencephalic Leukoencephalopathy (MLC)
| Alternate Names | Megalencephaly-cystic leukodystrophy syndrome, Vacuolating megalencephalic leukoencephalopathy with subcortical cysts, Van der Knaap syndrome, Van der Knapp Disease |
| Description | Characterised by infantile-onset macrocephaly, often with mild neurologic signs at presentation, such as mild motor delay, which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions. |
| Subtypes | 1, 2A, 2B
Types 1 and 2A have similar symptoms Types 2A and 2B have the same genetic cause Type 2b often improves after 1 year |
| Approved Treatments | No |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | 0.2
> 150 cases have been reported in literature, there is a greater incidence amongst Agrawals in India |
| Current Clinical Trials | No current clinical trials found |
| Fact Sheet | Megalencephalic Leukoencephalopathy Fact Sheet |
| Support | United Leukodystrophy Foundation: MLC Video |
Metachromatic Leukodystrophy (MLD)
| Alternate Names
(for each subtype) |
Arylsulfatase A Deficiency, ARSA Deficiency, MLD, Metachromatic Leukoencephalopathy, Diffuse Cerebral Sclerosis Metachromatic Form, Sulfatide Lipidosis, Cerebroside Sulfatase Deficiency
Metachromatic Leukodystrophy Due to Saposin B Deficiency; MLDSAPB, Metachromatic Leukodystrophy due to Cerebroside Sulfatase Activator Deficiency, Saposin B Deficiency |
| Description | A rare lysosomal disease characterised by accumulation of sulfatides in the central and peripheral nervous system due to deficiency of the enzyme arylsulfatase A, leading to demyelination. Symptoms are motor, cognitive function or behavioural problems. |
| Subtypes | Yes, ARSA deficiency and Saposin B deficiency |
| Approved Treatments | Bone marrow transplant (HSCT)
Benefit is variable and comes with significant risks |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | 0.8
1 : 100,000 in Australia |
| Natural History Study | Metachromatic Leukodystrophy (MLD) Natural History Study |
| Current Clinical Trials | 14 current studies found: |
| Fact Sheet | Metachromatic Leukodystrophy Fact Sheet |
| Support | Bethany’s Hope Foundation |
Multiple Sulfatase Deficiency (MSD)
| Alternate Names | Juvenile Sulfatidosis – Austin Type, MSD, Mucosulfatidosis |
| Description | A very rare lysosomal storage disease that has a combination of features from different sulfatase deficiencies such as hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus. |
| Subtypes | Neonatal (most severe), infantile (most common) and juvenile (rare) |
| Approved Treatments | No |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | 0.05 in Australia |
| Natural History Study | Multiple Sulfatase Deficiency (MSD) Natural History Study |
| Current Clinical Trials | No current clinical trials found |
| Support | MSD Action Foundation |
Pelizaeus-Merzbacher Disease (PMD)
| Alternate Names | Diffuse familial brain sclerosis, PMD, Pelizaeus-Merzbacher brain sclerosis, Sudanophilic leukodystrophy, Paelizeus-Merzbacher type, Hypomyelinating Leukodystrophy 1, HLD1 |
| Description | An X-linked leukodystrophy characterised by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. There are three sub-forms based on age of onset and severity: conatal, transitional, and classic PMD. |
| Subtypes | Yes |
| Approved Treatments | No |
| Inheritance | X-linked recessive |
| Incidence per 100,000 births | 0.95 |
| Natural History Study | Pelizaeus Merzbacher Disease (PMD) Natural History Study |
| Current Clinical Trials | 3 current studies found:
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases. |
| Fact Sheet | Pelizaeus-Merzbacher Disease Fact Sheet |
| Support | The M.O.R.G.A.N. Project |
Refsum Disease
| Alternate Names | Refsum Disease, Adult, 1; Phytanic Acid Oxidase Deficiency; Heredopathia Atactica Polyneuritiformis; Hereditary Motor And Sensory Neuropathy IV (HMSN4 or HMSN IV) |
| Description | A lipid metabolism disease characterised by retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells, but not all patients show every feature. All will have an accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. |
| Subtypes | No |
| Approved Treatments | Strict low phytanic acid diet, if necessary plasmapheresis or lipid apheresis which removes phytanic acid from the blood |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | Unknown, but it is uncommon |
| Current Clinical Trials | 2 current studies found:
MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
|
| Support | Global DARE Foundation |
Salla Disease
| Alternate Names | Sialuria Finnish Type |
| Description | Is a slowly progressive neurodegenerative disorder. It is characterised by hypotonia, cerebellar ataxia, and developmental delay. It is an adult form of sialuria or sialic acid storage disease particularly prevalent in Finland. |
| Subtypes | Similar to: Infantile sialic storage disease (ISSD) |
| Approved Treatments | No |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | Only reported in approximately 150 people |
| Current Clinical Trials | No current clinical trials found |
| Support | Salla Treatment and Research Foundation |
Sjogren-Larsson Syndrome (SLS)
| Alternate Names | Ichthyosis spastic neurologic disorder and oligophrenia; Fatty alcohol:nad+ oxidoreductase deficiency; Fatty aldehyde dehydrogenase deficiency; FALDH deficiency |
| Description | An early childhood onset disorder caused by a deficiency of fatty aldehyde. Its symptoms are ichthyosis (dry, itchy, rough skin disorder), developmental delay, spastic paraparesis, macular dystrophy, and leukoencephalopathy. |
| Subtypes | No |
| Approved Treatments | Diets low in long-chain fats and supplemented with medium-chain fats (triglycerides), keratolytic or urea-containing lotions or creams to skin, physical therapy for muscle stiffness |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | Unknown, prevalence in Sweden is 1 in every 250,000 individuals |
| Current Clinical Trials | 2 current studies found: |
| Support | Sjogren-Larsson Syndrome SLS Network |
Vanishing White Matter Disease (VWM)
| Alternate Names | Childhood Ataxia with Central Nervous System Hypomyelination, CACH syndrome, Leukoencephalopathy with vanishing white matter, Myelinosis centralis diffusa |
| Description | A form of leukoencephalopathy that is classically characterised by onset between 2 and 5 years of age which is exacerbated by episodes of fever or head trauma. |
| Subtypes | No |
| Approved Treatments | No |
| Inheritance | Autosomal Recessive |
| Incidence per 100,000 births | 1.25 |
| Current Clinical Trials | 1 current study found: |
| Fact Sheet | Vanishing White Matter Fact Sheet |
| Support | Saving Chloe Saxby
Vanishing White Matter Consortium |
Zellweger Spectrum (ZSD)
| Alternate Names | Peroxisome biogenesis disorders, PBD, ZSD, Zellweger syndrome, infantile Refsum disease, IRD, neonatal adrenoleukodystrophy, NALD |
| Description | A group of disorders impacting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment. The severe form is called Zellweger syndrome (ZS), which has neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. The intermediate and milder are called neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease but all forms are part of the spectrum. |
| Subtypes | Yes, 13 different types caused by different genes in the same family |
| Approved Treatments | No |
| Inheritance | Autosomal recessive |
| Incidence per 100,000 births | 1.19 |
| Current Clinical Trials | 1 current study found:
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) |
| Fact Sheet | Zellweger Spectrum Fact Sheet |
| Support | Global Foundation for Peroxisomal Disorders |