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Article ; Online: Development of an Infantile GM2 Clinical Rating Scale: Remote Assessment of Clinically Meaningful Health-Related Function.

Kiefer, Michael / Simione, Meg / Eichler, Florian S / Townsend, Elise L

2024 , Page(s) 8830738241246703

Abstract: GM2 gangliosidoses (GM2) are a group of rare lysosomal storage disorders in which accumulation of GM2 gangliosides results in progressive central nervous system damage. The infantile GM2 phenotype is characterized by delays in milestones by 6 months of ... ...

Abstract	GM2 gangliosidoses (GM2) are a group of rare lysosomal storage disorders in which accumulation of GM2 gangliosides results in progressive central nervous system damage. The infantile GM2 phenotype is characterized by delays in milestones by 6 months of age, followed by rapid loss of motor, cognitive, and visual function. Advancements in early diagnosis and pharmacotherapies provide promise for improved outcomes. However, the lack of feasible and clinically meaningful clinical outcome assessments for GM2 poses a challenge to characterizing GM2 natural history and selecting clinical trial endpoints. The purpose of this study was to develop a remotely administered infantile GM2 rating scale to measure health-related function in children with infantile GM2. A 2-phase mixed methods design was employed. In phase 1 of the study, 8 families of children with Infantile GM2 completed a natural history survey and a 1:1 semistructured interview to provide caregiver perspectives on the impacts of GM2 on health-related function. In phase 2 of the study, 8 expert clinicians provided feedback via surveys and participated in videoconference-hosted focus groups to refine scale administration and scoring procedures. These methods guided the development of 16 scale items to assess function in 5 health-related function domains: vision, hand and arm use, communication, gross motor, and feeding. This study used caregiver perspectives and expert clinician feedback to develop a remotely administered clinical outcome assessment of clinically meaningful health-related function in children with infantile GM2. Future studies will further evaluate the feasibility, reliability, and validity of the Infantile GM2 Clinical Rating Scale.
Language	English
Publishing date	2024-04-25
Publishing country	United States
Document type	Journal Article
ZDB-ID	639288-x
ISSN	1708-8283 ; 0883-0738
ISSN (online)	1708-8283
ISSN	0883-0738
DOI	10.1177/08830738241246703
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Article ; Online: Restless Legs Syndrome in X-linked adrenoleukodystrophy.

Winkelman, John W / Grant, Natalie R / Molay, Francine / Stephen, Christopher D / Sadjadi, Reza / Eichler, Florian S

Sleep medicine

2022 Volume 91, Page(s) 31–34

Abstract: Objective/background: X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disease that causes progressive gait and balance problems. Leg discomfort, sleep disturbances, and pain contribute to daily disability. We sought to investigate the ... ...

Abstract	Objective/background: X-linked adrenoleukodystrophy (ALD) is a neurodegenerative disease that causes progressive gait and balance problems. Leg discomfort, sleep disturbances, and pain contribute to daily disability. We sought to investigate the prevalence and severity of Restless Legs Syndrome (RLS) in patients with ALD. Patients/methods: We administered questionnaires and conducted diagnostic telephone interviews to assess RLS severity. We retrospectively extracted data from neurological examinations, functional gait measures, and laboratory assessments. Results and conclusions: Thirty-two adults with ALD (21 female, 11 male) were recruited to participate. Thirteen patients (40.6%) had RLS (10/21 females and 3/11 males). The median age of RLS onset was 35 years [IQR = 22-54]. Patients with RLS had more signs and symptoms related to myelopathy, but not the brain demyelination seen in ALD. This pilot study suggests a high prevalence of RLS in adults with ALD, which may contribute to sleep problems and impair quality of life.
MeSH term(s)	Adrenoleukodystrophy/complications ; Adrenoleukodystrophy/epidemiology ; Adult ; Female ; Humans ; Male ; Middle Aged ; Neurodegenerative Diseases ; Pilot Projects ; Prevalence ; Quality of Life ; Restless Legs Syndrome ; Retrospective Studies ; Severity of Illness Index ; Surveys and Questionnaires ; Young Adult
Language	English
Publishing date	2022-02-16
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	2012041-2
ISSN	1878-5506 ; 1389-9457
ISSN (online)	1878-5506
ISSN	1389-9457
DOI	10.1016/j.sleep.2022.02.008
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Zs.A 5315: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.

Godbole, Neha P / Haxton, Elizabeth / Rowe, Olivia E / Locascio, Joseph J / Schmahmann, Jeremy D / Eichler, Florian S / Ratai, Eva-Maria / Stephen, Christopher D

Annals of clinical and translational neurology

2023 Volume 11, Issue 1, Page(s) 207–224

Abstract: Objective: Late-onset GM2 gangliosidosis (LOGG) subtypes late-onset Tay-Sachs (LOTS) and Sandhoff disease (LOSD) are ultra-rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. Previous ... ...

Abstract	Objective: Late-onset GM2 gangliosidosis (LOGG) subtypes late-onset Tay-Sachs (LOTS) and Sandhoff disease (LOSD) are ultra-rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. Previous studies considered LOTS and LOSD clinically indistinguishable; recent studies have challenged this. We performed a scoping review to ascertain whether imaging and clinical features may differentiate these diseases. Methods: We examined MEDLINE/non-MEDLINE databases up to May 2022. Articles reporting brain imaging findings in genetically/enzymatically confirmed LOGG, symptom onset at age ≥ 10 years (or evaluated at least once ≥18 years) were included, yielding 170 LOGG patients (LOTS = 127, LOSD = 43) across 68 papers. We compared LOTS versus LOSD and performed regression analyses. Results were corrected for multiple comparisons. Results: Age of onset was lower in LOTS versus LOSD (17.9 ± 8.2 vs. 23.9 ± 14.4 years, p = 0.017), although disease duration was similar (p = 0.34). LOTS more commonly had psychosis/bipolar symptoms (35.0% vs. 9.30%, p = 0.011) but less frequent swallowing problems (4.10% vs. 18.60%, p = 0.041). Cerebellar atrophy was more common in LOTS (89.0%) versus LOSD (60.5%), p < 0.0001, with more severe atrophy in LOTS (p = 0.0005). Brainstem atrophy was documented only in LOTS (14.2%). Independent predictors of LOTS versus LOSD (odds ratio [95% confidence interval]) included the presence of psychosis/bipolar symptoms (4.95 [1.59-19.52], p = 0.011), no swallowing symptoms (0.16 [0.036-0.64], p = 0.011), and cerebellar atrophy (5.81 [2.10-17.08], p = 0.0009). Lower age of onset (0.96 [0.93-1.00], p = 0.075) and tremor (2.50 [0.94-7.43], p = 0.078) were marginally statistically significant but felt relevant to include in the model. Interpretation: These data suggest significant differences in symptomatology, disease course, and imaging findings between LOTS and LOSD.
MeSH term(s)	Humans ; Child ; Psychotic Disorders ; Disease Progression ; Atrophy ; Neurodegenerative Diseases ; Gangliosidoses, GM2/diagnostic imaging
Language	English
Publishing date	2023-11-27
Publishing country	United States
Document type	Review ; Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2740696-9
ISSN	2328-9503 ; 2328-9503
ISSN (online)	2328-9503
ISSN	2328-9503
DOI	10.1002/acn3.51947
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Article ; Online: Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.

Ramirez Alcantara, Jonanlis / Grant, Natalie R / Sethuram, Swathi / Nagy, Amanda / Becker, Catherine / Sahai, Inderneel / Stanley, Takara / Halper, Alyssa / Eichler, Florian S

The Journal of clinical endocrinology and metabolism

2023 Volume 108, Issue 11, Page(s) e1306–e1315

Abstract: Context: Males with adrenoleukodystrophy (ALD) have an 80% lifetime risk of developing adrenal insufficiency (AI), which can be life-threatening when undetected. Newborn screening (NBS) for ALD has been implemented in 29 states, yet the impact of NBS ... ...

Abstract	Context: Males with adrenoleukodystrophy (ALD) have an 80% lifetime risk of developing adrenal insufficiency (AI), which can be life-threatening when undetected. Newborn screening (NBS) for ALD has been implemented in 29 states, yet the impact of NBS upon clinical management has not been reported. Objective: To investigate whether the implementation of NBS has altered the time to diagnosis of AI in children with ALD. Design: We conducted a retrospective medical chart review of pediatric patients with ALD. Setting: All patients were seen in a leukodystrophy clinic in an academic medical center. Patients: We included all pediatric patients with ALD who were seen between May 2006 and January 2022. We identified 116 patients (94% boys). Main outcome measures: We extracted information about ALD diagnosis in all patients and AI surveillance, diagnosis, and treatment in boys with ALD. Results: Thirty-one (27%) patients were diagnosed with ALD by NBS, and 85 (73%) were diagnosed outside the newborn period. The prevalence of AI among boys in our patient population was 74%. AI diagnosis was made significantly earlier in boys diagnosed with ALD by NBS than in boys diagnosed outside the newborn period (median [IQR] age of diagnosis = 6.7 [3.9, 12.12] months vs 6.05 [3.74, 8.35] years) (P < .001). When maintenance dose of glucocorticoids were initiated, there were significant differences in ACTH and peak cortisol levels in patients diagnosed by NBS and outside the newborn period. Conclusions: Our results suggest that implementing NBS for ALD leads to significantly earlier detection of AI and earlier initiation of glucocorticoid supplementation in boys affected by ALD.
MeSH term(s)	Male ; Infant, Newborn ; Humans ; Child ; Female ; Adrenoleukodystrophy/diagnosis ; Adrenoleukodystrophy/epidemiology ; Retrospective Studies ; Neonatal Screening/methods ; Adrenal Insufficiency/diagnosis ; Adrenal Insufficiency/epidemiology ; Early Diagnosis
Language	English
Publishing date	2023-05-23
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/clinem/dgad286
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Article ; Online: Unusual Behaviors in a 7-year-old Boy.

Chang, Lawrence / Shao, Diane D / Eichler, Florian S / Srivastava, Siddharth

Pediatrics in review

2020 Volume 42, Issue Suppl 1, Page(s) S122–S125

MeSH term(s)	Child ; Child Behavior ; Humans ; Male
Language	English
Publishing date	2020-12-30
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	774515-1
ISSN	1526-3347 ; 0191-9601
ISSN (online)	1526-3347
ISSN	0191-9601
DOI	10.1542/pir.2019-0244
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Zs.B 2595: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Teaching NeuroImages: Vanishing white matter ovarioleukodystrophy.

Mukerji, Shibani S / Eichler, Florian S

Neurology

2016 Volume 86, Issue 24, Page(s) e248

MeSH term(s)	Adult ; Eukaryotic Initiation Factor-2B/genetics ; Female ; Homozygote ; Humans ; Leukoencephalopathies/diagnosis ; Leukoencephalopathies/diagnostic imaging ; Leukoencephalopathies/genetics ; Magnetic Resonance Imaging ; Mutation, Missense ; Neuroimaging/methods ; Neurology/education ; Ovarian Diseases/diagnosis ; Ovarian Diseases/diagnostic imaging ; Ovarian Diseases/genetics ; Young Adult
Chemical Substances	Eukaryotic Initiation Factor-2B
Language	English
Publishing date	2016-06-13
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000002764
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Ui II Zs.153: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
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Article ; Online: The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.

Nagy, Amanda / Molay, Francine / Hargadon, Sarah / Brito Pires, Claudia / Grant, Natalie / De La Rosa Abreu, Lizbeth / Chen, Jin Yun / D'Souza, Precilla / Macnamara, Ellen / Tifft, Cynthia / Becker, Catherine / Melo De Gusmao, Claudio / Khurana, Vikram / Neumeyer, Ann M / Eichler, Florian S

Orphanet journal of rare diseases

2024 Volume 19, Issue 1, Page(s) 79

Abstract: Background: TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628). Yet the developmental ... ...

Abstract	Background: TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628). Yet the developmental trajectory and progression of neurologic symptoms over time remains poorly understood. Methods: We developed and distributed a survey to two closed Facebook groups devoted to families of patients with TBL1XR1-related disorder. The survey consisted of 14 subsections focused upon the developmental trajectories of cognitive, behavioral, motor, and other neurological abnormalities. Data were collected and managed using REDCap electronic data capture tools. Results: Caregivers of 41 patients with a TBL1XR1-related disorder completed the cross-sectional survey. All reported variants affecting a single amino acid, including missense mutations and in-frame deletions, were found in the WD40 repeat regions of Tbl1xr1. These are domains considered important for protein-protein interactions that may plausibly underlie disease pathology. The majority of patients were diagnosed with a neurologic condition before they received their genetic diagnosis. Language appeared most significantly affected with only a minority of the cohort achieving more advanced milestones in this domain. Conclusion: TBL1XR1-related disorder encompasses a spectrum of clinical presentations, marked by early developmental delay ranging in severity, with a subset of patients experiencing developmental regression in later childhood.
MeSH term(s)	Humans ; Cross-Sectional Studies ; Neurodevelopmental Disorders ; Mutation, Missense/genetics ; Receptors, Cytoplasmic and Nuclear/genetics ; Repressor Proteins/genetics
Chemical Substances	Receptors, Cytoplasmic and Nuclear ; TBL1XR1 protein, human ; Repressor Proteins
Language	English
Publishing date	2024-02-20
Publishing country	England
Document type	Journal Article
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-024-03083-3
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Article: The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy.

Mallack, Eric J / Turk, Bela / Yan, Helena / Eichler, Florian S

Current treatment options in neurology

2019 Volume 21, Issue 12, Page(s) 61

Abstract: Purpose of review: To present an updated appraisal of hematopoietic stem cell transplant (HSCT) and gene therapy for X-linked adrenoleukodystrophy (ALD) in the setting of a novel, presymptomatic approach to disease.: Recent findings: Outcomes in HSCT ...

Abstract	Purpose of review: To present an updated appraisal of hematopoietic stem cell transplant (HSCT) and gene therapy for X-linked adrenoleukodystrophy (ALD) in the setting of a novel, presymptomatic approach to disease. Recent findings: Outcomes in HSCT for ALD have been optimized over time due to early patient detection, improved myeloablative conditioning regimens, and adjunctive treatment for patients with advanced cerebral disease. Gene therapy has arrested disease progression in a cohort of boys with childhood cerebral ALD. New therapeutic strategies have provided the clinical basis for the implementation of Newborn Screening (NBS). With the help of advocacy groups, NBS has been implemented, allowing for MRI screening for the onset of cerebral ALD from birth. Gene therapy and optimized hematopoietic stem cell transplant for childhood CALD have changed the natural history of this previously devastating neurological disease.
Language	English
Publishing date	2019-11-25
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2057342-X
ISSN	1534-3138 ; 1092-8480
ISSN (online)	1534-3138
ISSN	1092-8480
DOI	10.1007/s11940-019-0605-y
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Article ; Online: Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.

Wong, Janice C / Walsh, Kailey / Hayden, Douglas / Eichler, Florian S

Journal of inherited metabolic disease

2018 Volume 41, Issue 4, Page(s) 647–656

Abstract: Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare inherited neurodegenerative disorder in bile acid synthesis. The natural history of neurological abnormalities in CTX is not well understood. The object of this study was to determine ... ...

Abstract	Objectives: Cerebrotendinous xanthomatosis (CTX) is a rare inherited neurodegenerative disorder in bile acid synthesis. The natural history of neurological abnormalities in CTX is not well understood. The object of this study was to determine neurological progression in CTX. Methods: A literature search on PubMed for "cerebrotendinous xanthomatosis" yielded 91 publications that reported cases of CTX patients. Two independent reviewers abstracted information about the presence and age of onset of neurological abnormalities in published CTX cases. For each neurological abnormality, we estimated the probability of its onset at any given age using cumulative incidence function analysis. We also present our own case series, in which five CTX patients were evaluated. Results: The literature search yielded 194 CTX cases (ages ranging from newborn to 67 years old). The most common neurological abnormalities were corticospinal tract abnormalities including weakness, hyperreflexia, spasticity, Babinski sign (59.8%), ataxia (58.8%), cognitive decline (46.4%), and gait difficulty (38.1%); 68 (35.0%) had baseline cognitive problems. Cumulative incidence function analysis revealed that ataxia, gait difficulties, and corticospinal tract abnormalities developed throughout life, while cognitive decline tended to develop later in life. Of the less common neurological abnormalities, seizures, psychiatric changes and speech changes developed throughout life, while parkinsonism and sensory changes tended to develop later in life. Our case series corroborated this temporal pattern of neurological abnormalities. Conclusion: We provide estimates for the neurological progression of CTX, categorizing neurological abnormalities according to time and probability of development. Our approach may be applicable to other rare disorders.
MeSH term(s)	Adult ; Aged ; Brain/diagnostic imaging ; Brain/pathology ; Chenodeoxycholic Acid/therapeutic use ; Disease Progression ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Nervous System Diseases/drug therapy ; Nervous System Diseases/physiopathology ; Treatment Outcome ; Xanthomatosis, Cerebrotendinous/diagnosis ; Xanthomatosis, Cerebrotendinous/drug therapy
Chemical Substances	Chenodeoxycholic Acid (0GEI24LG0J)
Language	English
Publishing date	2018-02-26
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1007/s10545-018-0152-9
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Article ; Online: Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy.

Corre, Camille S / Grant, Natalie / Sadjadi, Reza / Hayden, Douglas / Becker, Catherine / Gomery, Pablo / Eichler, Florian S

Orphanet journal of rare diseases

2021 Volume 16, Issue 1, Page(s) 14

Abstract: Objective: To characterize the prevalence, onset, and burden of urinary and bowel dysfunction in adult patients with adrenoleukodystrophy (ALD) and to evaluate any sex differences in symptom presentation.: Methods: In this retrospective and ... ...

Abstract	Objective: To characterize the prevalence, onset, and burden of urinary and bowel dysfunction in adult patients with adrenoleukodystrophy (ALD) and to evaluate any sex differences in symptom presentation. Methods: In this retrospective and prospective study, we performed medical record review (n = 103), analyzed the results of clinically indicated urodynamic testing (n = 11), and developed and distributed a symptom and quality of life (QOL) survey (n = 59). Results: Urinary and bowel symptoms are highly prevalent in both males (75.0%) and females (78.8%) in this population, most commonly urinary urgency, often leading to incontinence. Time to onset of first urinary or bowel symptom occurs approximately a decade earlier in males. Seventy-two percent of symptomatic patients report a limitation to QOL. Urodynamic evaluation provides evidence of three distinct mechanisms underlying lower urinary tract dysfunction: involuntary detrusor contractions (indicating uncontrolled neuronal stimulation with or without leakage), motor underactivity of the bladder, and asynergy between detrusor contraction and sphincter relaxation. Conclusions: Beyond gait and balance difficulties, urinary and bowel symptoms are common in adults with ALD and impair QOL. Males are affected at a younger age but both sexes experience a higher symptom burden with age. As this population also experiences gait and balance impairment, patients with ALD are more vulnerable to urinary urgency leading to incontinence. Urodynamic evaluation may help better elucidate the pathophysiologic mechanisms underlying neurogenic lower urinary tract dysfunction, which can allow more targeted treatment.
MeSH term(s)	Adrenoleukodystrophy ; Adult ; Female ; Gait ; Humans ; Male ; Prospective Studies ; Quality of Life ; Retrospective Studies ; Urinary Tract
Language	English
Publishing date	2021-01-06
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1750-1172
ISSN (online)	1750-1172
DOI	10.1186/s13023-020-01596-1
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