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Elite
  • Global leaders in their field
  • Publish in medical journals frequently
  • Speak at conferences
  • Participate in clinical trials
  • Likely to work with cutting edge treatments
  • Likely to hold leadership positions in their organization
Distinguished
  • Leaders in their field
  • Strong research portfolio
  • Likely to work with cutting edge treatments
  • Likely to be a leader in their field regionally
Advanced
  • Likely to be excellent at diagnosing and treating conditions
  • Treat many patients and have extensive experience in their field
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Experienced
  • Primarily treat patients
  • May be specialists or primary care physicians
  • Have great experience in diagnosing and treating conditions
  • Less likely to set themselves apart from peers by publishing, speaking at conferences, or participating in clinical trials
  • Majority of doctors fall within this rating
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1136 doctors found
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Elite

University Of Tübingen

Department Of Neurodegenerative Diseases
 
Tuebingen, BW, DE 

Matthis Synofzik practices. Synofzik is rated as an Elite doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 67 other conditions, according to our data. His top areas of expertise are Boucher-Neuhauser Syndrome, Acute Cerebellar Ataxia, Harding Ataxia, and Cerebellar Degeneration.

Distinguished
Neurology

Massachusetts General Physicians Organization Inc

55 Fruit St
 
Boston, MA 02114

Jeremy Schmahmann is a Neurologist. Dr. Schmahmann has been practicing medicine for over 41 years and is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 58 other conditions, according to our data. His top areas of expertise are Acute Cerebellar Ataxia, Spinocerebellar Ataxia, Spinocerebellar Ataxia Type 7, and Spinocerebellar Ataxia Type 1. He is board certified in Neurology. Dr. Schmahmann is currently accepting new patients.

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Distinguished
Neurology

University Of Chicago

5841 S Maryland Ave
 
Chicago, IL 60637

Christoph Gomez is a Neurologist. Dr. Gomez has been practicing medicine for over 38 years and is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 60 other conditions, according to our data. His top areas of expertise are Boucher-Neuhauser Syndrome, Spinocerebellar Ataxia Type 17, Spinocerebellar Ataxia Type 27, and Spinocerebellar Ataxia Type 7. He is board certified in Neurology. Dr. Gomez is currently accepting new patients.

Distinguished
Neurology

Hospital For Special Care

2150 Corbin Ave
 
New Britain, CT 06053

Charles Whitaker is a Neurologist. Dr. Whitaker has been practicing medicine for over 30 years and is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 107 other conditions, according to our data. His top areas of expertise are Limb-Girdle Muscular Dystrophy Type 2I, Limb-Girdle Muscular Dystrophy Type 1A, Limb-Girdle Muscular Dystrophy Type 2B, and Limb-Girdle Muscular Dystrophy. He is board certified in Neurology and Pathology.

Distinguished
Neurology

Regents Of The Univ Of Ca

4860 Y St
 
Sacramento, CA 95817

Vicki Wheelock is a Neurologist. Dr. Wheelock has been practicing medicine for over 38 years and is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. She is also highly rated in 56 other conditions, according to our data. Her top areas of expertise are Huntington Disease, Mcleod Neuroacanthocytosis Syndrome, Spinocerebellar Ataxia Type 7, and Boucher-Neuhauser Syndrome. She is board certified in Neurology. Dr. Wheelock is currently accepting new patients.

Distinguished
Neurology

University Of Texas Southwestern Medical Center

4260 Plymouth Rd
 
Ann Arbor, MI 48109

Vikram Shakkottai is a Neurologist. Dr. Shakkottai has been practicing medicine for over 21 years and is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 68 other conditions, according to our data. His top areas of expertise are Ataxia-Telangiectasia, Spinocerebellar Ataxia Type 7, Episodic Ataxia with Nystagmus, and Spinocerebellar Ataxia Type 11. He is board certified in Neurology. Dr. Shakkottai is currently accepting new patients.

Distinguished

University Of Tübingen

Institute For Ophthalmic Research
 
Tuebingen, BW, DE 72076

Tobias Haack practices. Haack is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 46 other conditions, according to our data. His top areas of expertise are Hypotonia, Lactic Acidosis, Beta-Propeller Protein-Associated Neurodegeneration, and Mitochondrial Complex 1 Deficiency.

Distinguished

University Of Tübingen

Hertie Institute For Clinical Brain Research
 
Tuebingen, BW, DE 

Ludger Schols practices. Schols is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 66 other conditions, according to our data. His top areas of expertise are Spastic Paraplegia Type 4, Spastic Paraplegia Type 7, Spastic Paraplegia Type 2, and Paraplegia.

Distinguished

University Of Tübingen

University Eye Hospital
 
Tuebingen, BW, DE 

Christoph Kernstock practices. Kernstock is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Boucher-Neuhauser Syndrome, Optic Nerve Atrophy, Yunis-Varon Syndrome, and Color Blindness.

Distinguished
Neurology

Central Vermont Medical Center Inc

156 Main St
 
Montpelier, VT 05602

Deborah Black is a Neurologist. Dr. Black has been practicing medicine for over 42 years and is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. She is also highly rated in 76 other conditions, according to our data. Her top areas of expertise are Progressive Supranuclear Palsy Atypical, Supranuclear Ophthalmoplegia, Progressive Supranuclear Palsy, and Supranuclear Ocular Palsy. She is board certified in Neurology and Neuropsychiatry. Dr. Black is currently accepting new patients in some locations.

Distinguished
Neurology

Kansas University Physicians Inc

3901 Rainbow Blvd
 
Kansas City, KS 66160

Richard Dubinsky is a Neurologist. Dr. Dubinsky has been practicing medicine for over 39 years and is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 36 other conditions, according to our data. His top areas of expertise are Drug Induced Dyskinesia, Huntington Disease, Meige Syndrome, and Mcleod Neuroacanthocytosis Syndrome. He is board certified in Neurology. Dr. Dubinsky is currently accepting new patients.

Distinguished
Neurology

Brigham And Womens Physicians Organization Inc

20 Patriot Pl
 
Foxborough, MA 02035

Christopher Stephen is a Neurologist. Dr. Stephen has been practicing medicine for over 16 years and is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Spinocerebellar Ataxia Type 11, Spinocerebellar Ataxia Type 31, Boucher-Neuhauser Syndrome, and Episodic Ataxia with Nystagmus. He is board certified in Neurology. Dr. Stephen is currently accepting new patients.

Distinguished
Neurology

Cleveland Clinic Foundation

18101 Lorain Ave
 
Cleveland, OH 44111

Ilia Itin is a Neurologist. Dr. Itin has been practicing medicine for over 22 years and is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 72 other conditions, according to our data. His top areas of expertise are Parkinson's Disease, Spinocerebellar Ataxia Type 17, Spinocerebellar Ataxia Type 4, and Spinocerebellar Ataxia Type 5. He is board certified in Neurology. Dr. Itin is currently accepting new patients.

Distinguished
Neurology

Wood Health Company LLC

960 W Wooster St
 
Bowling Green, OH 43402

Howard Schecht is a Neurologist. Dr. Schecht has been practicing medicine for over 31 years and is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 16 other conditions, according to our data. His top areas of expertise are Seizures, Epilepsy, Episodic Ataxia with Nystagmus, and Spinocerebellar Ataxia Type 27. He is board certified in Neurology. Dr. Schecht is currently accepting new patients.

Distinguished
Neurology
Psychiatry

Johns Hopkins University

601 N Caroline St
 
Baltimore, MD 21287

Ankur Butala is a Neurologist and a Psychiatrist. Dr. Butala has been practicing medicine for over 13 years and is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 15 other conditions, according to our data. His top areas of expertise are Parkinson's Disease, Dentatorubral-Pallidoluysian Atrophy, Spinocerebellar Ataxia Type 3, and Spinocerebellar Ataxia Type 31. He is board certified in Neurology and Psychiatry. Dr. Butala is currently accepting new patients.

Distinguished
Physiatry

Medical Services Ric

355 E Erie St
 
Chicago, IL 60611

Panjaporn Supanwanid-Henrich is a Physiatrist. Dr. Supanwanid-Henrich has been practicing medicine for over 18 years and is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. She is also highly rated in 19 other conditions, according to our data. Her top areas of expertise are Hemiplegia, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 1, and Spinocerebellar Ataxia Type 27. She is board certified in Physical Medicine And Rehabilitation. Dr. Supanwanid-Henrich is currently accepting new patients.

Distinguished
Geriatrics
Internal Medicine

Trumen Physicians And Associates PLLC

Houston, TX 77054

Biju Oommen is a Geriatrics specialist and an Internal Medicine doctor. Dr. Oommen has been practicing medicine for over 24 years and is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 148 other conditions, according to our data. His top areas of expertise are Dementia, Painful Swallowing, Vascular Dementia, and Alzheimer's Disease. He is board certified in Internal Medicine and Geriatric Medicine. Dr. Oommen is currently accepting new patients.

Distinguished
General Practice

Primary Health Group Inc

Richmond, VA 23225

Kausalya Pendyal is a General Practice doctor. Dr. Pendyal has been practicing medicine for over 25 years and is rated as a Distinguished doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. She is also highly rated in 18 other conditions, according to our data. Her top areas of expertise are Episodic Ataxia with Nystagmus, Spinocerebellar Ataxia Type 7, Spinocerebellar Ataxia Type 11, and Boucher-Neuhauser Syndrome. She is board certified in Family Medicine. Dr. Pendyal is currently accepting new patients.

Advanced
Neurology

Northwestern Medical Faculty Foundation

259 E Erie St
 
Chicago, IL 60611

Danny Bega is a Neurologist. Dr. Bega has been practicing medicine for over 12 years and is rated as an Advanced doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 15 other conditions, according to our data. His top areas of expertise are Parkinson's Disease, Mcleod Neuroacanthocytosis Syndrome, Huntington Disease, and Dentatorubral-Pallidoluysian Atrophy. He is board certified in Neurology. Dr. Bega is currently accepting new patients.

Advanced
Neurology

Wake Forest University Health Sciences

131 Miller St
 
Winston Salem, NC 27103

Jessica Tate is a Neurologist. Dr. Tate has been practicing medicine for over 13 years and is rated as an Advanced doctor by MediFind in the treatment of Boucher-Neuhauser Syndrome. She is also highly rated in 20 other conditions, according to our data. Her top areas of expertise are Drug Induced Dyskinesia, Primary Orthostatic Tremor, Parkinson's Disease, and Essential Tremor. She is board certified in Neurology. Dr. Tate is currently accepting new patients.

Showing 1-20 of 1136

What is the definition of Boucher-Neuhauser Syndrome?

Boucher-Neuhäuser syndrome is a rare disorder that affects movement, vision, and sexual development. It is part of a continuous spectrum of neurological conditions, known as PNPLA6-related disorders, that share a genetic cause and have a combination of overlapping features. Boucher-Neuhäuser syndrome is characterized by three specific features: ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.

Ataxia describes difficulty with coordination and balance. In Boucher-Neuhäuser syndrome, it arises from a loss of cells (atrophy) in the part of the brain involved in coordinating movements (the cerebellum). Affected individuals have an unsteady walking style (gait) and frequent falls.

Another key feature of Boucher-Neuhäuser syndrome is hypogonadotropic hypogonadism, which is a condition affecting the production of hormones that direct sexual development. Affected individuals have a delay in development of the typical signs of puberty, such as the growth of facial hair and deepening of the voice in males, and the start of monthly periods (menstruation) and breast development in females. Other hormone abnormalities lead to short stature in some affected individuals.

The third characteristic feature of Boucher-Neuhäuser syndrome is eye abnormalities, most commonly chorioretinal dystrophy. Chorioretinal dystrophy refers to problems with the light-sensitive tissue that lines the back of the eye (the retina) and a nearby tissue layer called the choroid. These eye abnormalities lead to impaired vision. People with Boucher-Neuhäuser syndrome can also have abnormal eye movements, including involuntary side-to-side movements of the eyes (nystagmus).

The key features of Boucher-Neuhäuser syndrome can begin anytime from infancy to adulthood, although at least one feature usually occurs by adolescence. Ataxia is often the initial symptom of the disorder, but vision problems or delayed puberty can be the earliest finding. Vision and movement problems worsen slowly throughout life and can result in blindness or the need for a wheelchair for mobility in the most severely affected individuals.

People with Boucher-Neuhäuser syndrome can have additional medical problems, including muscle stiffness (spasticity); impaired speech (dysarthria); and difficulty processing, learning, or remembering information (cognitive impairment).

Behind the Boucher-Neuhauser Syndrome List

MediFind is the industry authority on identifying the leading medical experts and latest research in order to help patients facing complex health challenges, including Boucher-Neuhauser Syndrome, make better health decisions. Leveraging our expertise in natural language processing and machine learning across thousands of diseases, we uncover physicians who are leading authorities on Boucher-Neuhauser Syndrome. MediFind identifies these experts using proprietary world-class models that assess over 2.5 million global doctors based on a range of variables, including research leadership, patient volume, peer standing, and connectedness to other experts. Learn more about our methodology by exploring how MediFind works.